Orthopaedic Surgery - Femoral Anteversion

Basics

Femoral torsion describes the rotational relationship between the axis of the femoral neck and the transcondylar axis of the distal femur.

When the femoral neck is rotated excessively anteriorly relative to the distal femur, the condition is termed increased femoral anteversion.

Increased anteversion commonly produces in-toeing during walking or running.

In most children, the condition is benign and improves spontaneously as growth occurs.

Synonym

In-toeing caused by femoral anteversion is sometimes referred to colloquially as pigeon-toed gait, although this term can also describe other causes of in-toeing.

Epidemiology

In-toeing from increased femoral anteversion often becomes increasingly apparent during the first several years of childhood, commonly reaching its greatest visibility around 4–5 years of age.

Thereafter, spontaneous improvement usually occurs, with substantial correction by approximately 8 years of age.

Sex and Symmetry

Increased femoral anteversion is typically bilateral and relatively symmetric.

Females, on average, demonstrate somewhat greater femoral internal rotation and femoral version than males.

Incidence

Increased femoral anteversion is one of the most common causes of in-toeing in early childhood.

Risk Factors

A positive family history of rotational abnormalities increases the likelihood that a child will demonstrate increased femoral anteversion.

Etiology

Normal Development

Many newborns have substantial femoral anteversion together with an external rotation contracture of the hip and internal tibial torsion.

The external rotation contracture can initially conceal the increased femoral anteversion, so the in-toeing may not become obvious until later in childhood.

Anteversion at Birth

Femoral anteversion is approximately 40° at birth.

With normal growth and remodeling, it progressively decreases.

Adult Values

By approximately 8 years of age, much of the remodeling has occurred, with femoral anteversion approaching the typical adult range of approximately 10–15°.

Some additional variation persists among individuals.

Genetic and Connective-Tissue Factors

Differences in inheritance, connective-tissue characteristics, and skeletal development contribute to the variation in femoral rotation seen among children.

Femoral Version and Torsion

The terminology can vary.

Femoral version generally refers to the rotational orientation of the femoral neck relative to the distal femur, while femoral torsion may be used to describe rotational contribution from the femoral shaft.

The term total femoral version recognizes that both proximal and shaft anatomy contribute to the overall rotational alignment.

Associated Conditions

Increased femoral anteversion may coexist with internal tibial torsion.

The overall direction of the foot during gait reflects the combined rotational contributions of the femur, tibia, and foot.

Diagnosis

Signs and Symptoms

The characteristic presentation is in-toeing during walking or running, often accompanied by an appearance of the knees and patellae turning inward.

Most affected children have no pain.

W-Sitting

Children with increased anteversion often prefer to sit in the W position, with the hips internally rotated and the knees flexed while the feet lie outside the hips.

This position is comfortable because of their increased internal hip rotation.

Parental Concerns

Parents commonly seek evaluation because of frequent tripping, falling, unusual shoe wear, or concern about the appearance of the child’s gait.

These concerns are often most noticeable during running.

Knee Pain

Pain is uncommon in isolated childhood femoral anteversion.

Anterior knee pain may occasionally occur when excessive femoral anteversion is combined with external tibial torsion and patellofemoral malalignment, sometimes termed miserable malalignment syndrome.

History

Birth History

A birth and developmental history should be obtained.

This is particularly important when abnormal muscle tone, delayed milestones, or gait abnormalities raise concern for an underlying neurologic disorder such as cerebral palsy.

Family History

The family history should include rotational deformities, skeletal dysplasias, metabolic bone disorders such as rickets, and significant childhood gait abnormalities.

Physical Examination

General Principles

The diagnosis can usually be established clinically without advanced imaging.

Examination should begin with gait observation and then proceed systematically from the hips to the feet.

Gait

During walking, affected children demonstrate in-toeing with the patellae often pointing medially.

This helps distinguish femoral anteversion from isolated tibial or foot abnormalities.

Running Pattern

During running, the legs may demonstrate a characteristic circumduction or “eggbeater” appearance, reflecting excessive internal femoral rotation.

Rotational Profile

A complete rotational profile should be recorded when evaluating pediatric in-toeing.

This helps determine whether the deformity arises from the femur, tibia, foot, or a combination of levels.

Foot Progression Angle

The foot progression angle describes the angle between the long axis of the foot and an imaginary straight line representing the direction of walking.

A negative or inward angle reflects in-toeing, while an outward angle indicates out-toeing.

Hip Rotation

Passive internal and external rotation of the hip is an important clinical estimate of femoral rotational alignment.

The child is commonly examined prone with the knees flexed to 90°.

Hip Rotation in Infants

In infants, average internal rotation is approximately 40°, with a broad normal range of roughly 10–60°.

Average external rotation is about 70°, with a range of approximately 45–90°.

Hip Rotation by Age 10

By around 10 years of age, internal rotation averages approximately 50°, while external rotation averages about 45°, although substantial individual variation remains.

Increased Internal Rotation

Markedly increased internal rotation combined with reduced external rotation supports increased femoral anteversion.

Internal rotation approaching 70°, 80°, or 90° may correspond clinically to mild, moderate, or severe rotational excess.

External Rotation

Increased anteversion is typically associated with decreased external hip rotation.

The asymmetry between internal and external rotation is often more useful than any isolated number.

Accuracy of Clinical Examination

Clinical hip rotation measurements provide a useful estimate of femoral anteversion and correlate reasonably well with CT-based rotational measurements in many patients.

Tibial Torsion Assessment

Thigh-Foot Axis

The thigh-foot axis is measured with the patient prone and the knees flexed.

It is the angle between the longitudinal axis of the thigh and the axis of the foot.

This measurement primarily reflects tibial rotational alignment.

Transmalleolar Axis

The transmalleolar axis compares a line connecting the medial and lateral malleoli with the distal femoral condylar axis.

It provides another estimate of tibial torsion.

Foot Assessment

Heel-Bisector Line

The heel-bisector line is used to evaluate forefoot alignment.

A line is projected from the center of the heel through the forefoot to determine the presence of metatarsus adductus or abduction.

Definition of Abnormal Rotation

A rotational measurement approximately two standard deviations outside the normal mean for age is generally considered abnormal.

Clinical significance, however, depends on symptoms and functional impairment rather than measurement alone.

Imaging

General Role

Routine imaging is unnecessary for most children with typical symmetric femoral anteversion and a normal neurologic and hip examination.

Indications for Radiographs

Radiographs should be considered when there is marked asymmetry, significant pain, short stature, progressive deformity, or an unusually abnormal rotational profile.

Pelvic Radiographs

A pelvic radiograph is appropriate when the hip examination is abnormal or when developmental dysplasia of the hip or another structural hip disorder is suspected.

CT

CT can quantify femoral version accurately and may be useful in patients being considered for corrective surgery.

Because of radiation exposure, it is not routinely required for uncomplicated childhood in-toeing.

Concerning Findings

A progressive, highly asymmetric, or painful rotational deformity should prompt evaluation for underlying pathology rather than being assumed to represent physiologic femoral anteversion.

Cerebral Palsy

A gait combining equinus and in-toeing, particularly when accompanied by abnormal tone, weakness, or delayed development, may suggest cerebral palsy.

Developmental Dysplasia of the Hip

A Trendelenburg gait, restricted hip movement, limb-length inequality, or other abnormal hip findings should raise concern for developmental dysplasia of the hip.

Differential Diagnosis

Internal Tibial Torsion

Internal tibial torsion is another common cause of childhood in-toeing.

Unlike femoral anteversion, the patellae may face forward while the feet turn inward.

Developmental Dysplasia of the Hip

DDH can alter lower-extremity rotation and gait and should be excluded when the hip examination is abnormal.

Cerebral Palsy

Neuromuscular rotational abnormalities may mimic idiopathic anteversion but are usually accompanied by abnormal tone, weakness, contracture, or other neurologic findings.

Metatarsus Adductus

Forefoot adduction can also produce in-toeing and is identified through examination of the foot and heel-bisector line.

Treatment

General Principles

Most children require no active treatment because femoral anteversion improves naturally with growth.

Education and reassurance are the mainstays of management.

Natural Remodeling

Substantial spontaneous remodeling occurs before approximately 8 years of age.

After this point, further rotational correction is usually limited.

Observation

Children with a typical, symmetric deformity and no significant functional impairment can be observed.

The appearance may remain noticeable for several years even while gradual improvement is occurring.

Bracing and Shoe Modifications

Special shoes, braces, twister cables, and similar devices do not alter the natural history of femoral anteversion and are generally unnecessary.

Activity

Routine activity should not be restricted.

Most children can participate fully in sports and normal play.

Physical Therapy

Exercises and stretching do not change the underlying femoral rotation.

Physical therapy is therefore not required solely to correct idiopathic anteversion.

Therapy may be useful when another associated condition produces weakness, balance problems, or abnormal movement patterns.

Persistent Femoral Anteversion

Some children retain increased anteversion beyond 8 years of age.

Most remain asymptomatic and do not require treatment even when the rotational profile remains outside average values.

Indications for Surgery

Corrective surgery is rarely necessary.

It may be considered in a child older than approximately 8 years who has severe persistent anteversion, substantial functional impairment, and a deformity that is unlikely to remodel further.

Functional Indications

Potential indications include recurrent tripping or falling that interferes with sports or activities of daily living, marked gait dysfunction, or persistent pain clearly related to the rotational deformity.

Cosmetic appearance alone is usually insufficient.

Degree of Anteversion

Femoral anteversion greater than approximately 50° has historically been used as one factor supporting surgery when significant symptoms are also present.

The rotational measurement should never be used in isolation.

Miserable Malalignment Syndrome

Surgery may also be considered in carefully selected patients with excessive femoral anteversion combined with external tibial torsion, increased Q-angle, patella alta, and persistent anterior knee pain.

This combination is sometimes referred to as miserable malalignment syndrome.

Surgery

Femoral Derotation Osteotomy

The definitive surgical treatment is a femoral derotation osteotomy.

The femur is divided, rotated into more appropriate alignment, and stabilized with internal fixation.

Osteotomy Level

The osteotomy may be performed at the proximal femur, diaphysis, or distal femur.

No single level is ideal for every patient because excessive rotation may arise from different portions of the femur.

Preoperative planning should therefore be individualized.

Intramedullary Fixation

A diaphyseal derotation osteotomy can be stabilized with an intramedullary nail.

In adolescents, this approach can provide reliable rotational correction and may improve function and pain in carefully selected symptomatic patients.

Weight Bearing

Depending on fixation stability and surgeon preference, patients may be allowed to bear weight relatively early, sometimes as tolerated.

Combined Femoral and Tibial Osteotomy

Patients with miserable malalignment syndrome may require both femoral and tibial derotation osteotomies when clinically significant abnormalities exist at both levels.

Follow-Up

Prognosis

The prognosis is excellent.

Most children experience substantial spontaneous improvement by approximately 8 years of age and have no long-term functional limitation.

Arthritis Risk

Isolated increased femoral anteversion in otherwise healthy children has not been clearly associated with an increased risk of hip or knee osteoarthritis.

Rotational alignment at the opposite extreme, particularly decreased femoral anteversion or excessive retroversion in some settings, may have different biomechanical consequences.

Surgical Complications

Potential complications of femoral derotation osteotomy include nonunion, malunion, hardware prominence, infection, overcorrection, undercorrection, and persistence of pain or functional symptoms.

Careful patient selection is therefore essential.

Patient Monitoring

Children with mild typical femoral anteversion generally need only routine observation.

Those with severe deformity may be reviewed annually or every 6–12 months to document expected rotational improvement with growth.

Follow-up should assess gait, hip rotation, foot progression angle, functional symptoms, symmetry, pain, and the development of any findings suggesting an underlying neurologic or structural disorder.

Orthopaedic Surgery - The Female Athlete Triad

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Basics

The female athlete triad is a clinical spectrum involving three interrelated abnormalities: low energy availability, menstrual dysfunction, and impaired bone health with reduced bone mineral density (BMD).

Low energy availability may occur with or without a formal eating disorder, and an athlete does not need to demonstrate all three components simultaneously to be at risk of clinically important or potentially irreversible skeletal consequences.

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Components of the Triad

The three major components are menstrual dysfunction, inadequate energy availability relative to exercise expenditure, and decreased bone mineral density.

Each exists along a continuum of severity, and abnormalities in one component can adversely influence the others.

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Menstrual Dysfunction

Menstrual dysfunction is common in affected athletes, with amenorrhea being the classic presentation.

Menstrual abnormalities result largely from hypothalamic suppression caused by inadequate energy availability and subsequent disturbances of reproductive hormone production.

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Low Energy Availability

Low energy availability occurs when dietary energy intake is insufficient to support both the demands of exercise and the body’s normal physiologic functions.

This may result from an eating disorder such as anorexia nervosa or bulimia nervosa, deliberate dietary restriction, extreme dieting, or simply inadequate caloric intake for the athlete’s training load.

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Bone Mineral Density

Reduced energy availability and menstrual dysfunction interfere with normal bone remodeling.

Hypoestrogenism is an important contributor to increased bone resorption, although multiple other metabolic and endocrine abnormalities also affect bone health.

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Importance of Screening

Athletes at risk may have any body habitus and may participate in any sport.

Therefore, screening should not be restricted to athletes who appear underweight or participate only in traditionally high-risk sports.

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Incomplete Triad

All three components do not have to be present for adverse effects to occur.

For example, an athlete may already experience reduced bone formation and stress injury while still having intermittent or apparently normal menstrual cycles.

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Opportunities for Screening

Screening can occur in multiple clinical settings, including primary care, obstetrics and gynecology, pediatric care, sports medicine, and orthopedic clinics.

Preparticipation examinations and preventive health visits provide particularly useful opportunities.

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Epidemiology

The full triad has historically been estimated to occur in approximately 2–5% of the general female population, while individual components are considerably more common.

The prevalence is substantially higher in certain athletic populations.

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High-Risk Sports

Sports emphasizing leanness, low body weight, endurance, or aesthetic appearance are associated with increased risk.

Examples include distance running, gymnastics, ballet and other forms of dance.

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Weight-Class Sports

Athletes participating in sports with formal weight categories are also vulnerable because of pressure to reduce body mass.

Examples include boxing, wrestling, and mixed martial arts.

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Associated Conditions and Complications

The three components of the triad interact with each other, and each can produce additional medical complications.

Persistent energy deficiency is the central driver in many affected athletes.

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Menstrual Dysfunction and Reproductive Health

Chronic menstrual dysfunction may impair reproductive function and can contribute to infertility.

Restoration of adequate energy availability often plays a central role in normalizing hypothalamic and reproductive function.

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Stress Fractures

Stress fractures are among the most clinically important orthopedic complications.

Athletes with the triad have a substantially increased risk of bone stress injury, historically reported at approximately two to four times that of unaffected individuals.

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High-Risk Stress Fracture Sites

Important high-risk locations include the femoral neck, anterior tibial cortex, tarsal navicular, base of the fifth metatarsal, and sesamoids of the first metatarsal.

These sites have greater risks of delayed union, nonunion, displacement, or complete fracture.

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Peak Bone Mass

Adolescence and early adulthood are critical periods for achieving peak bone mass.

Low energy availability and hypoestrogenism during these years may prevent optimal skeletal mineral accumulation and contribute to osteopenia, osteoporosis, and increased fracture susceptibility later in life.

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Hypothalamic Suppression

Low energy availability suppresses normal hypothalamic function.

This alters gonadotropin-releasing hormone signaling and produces multiple downstream endocrine abnormalities.

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Hypoestrogenism and Hypoleptinemia

Reduced estrogen and leptin levels are among the hormonal consequences of persistent energy deficiency.

Both can adversely affect bone metabolism and other organ systems.

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Brain-Bone Interaction

Energy deficiency produces complex feedback changes between the central nervous system, endocrine system, and skeleton.

Unless adequate energy availability is restored, these alterations may perpetuate impaired bone formation and abnormal remodeling.

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Diagnosis

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General Principles

Diagnosis depends on recognizing one or more elements of the triad and determining whether inadequate energy availability is contributing.

A detailed history of menstrual function, nutrition, exercise, body image, previous fractures, and weight change is essential.

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Signs and Symptoms

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Stress Fractures

Recurrent or unusual stress fractures should prompt evaluation for the female athlete triad, particularly when they involve high-risk locations or occur after relatively modest training changes.

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Amenorrhea

Amenorrhea may be classified as primary or secondary.

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Primary Amenorrhea

Primary amenorrhea is traditionally defined as absence of menarche by approximately 15 years of age despite otherwise appropriate development of secondary sexual characteristics.

Delayed pubertal development requires broader endocrine evaluation.

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Secondary Amenorrhea

Secondary amenorrhea refers to absence of menstrual periods for more than approximately 3 months in someone who previously menstruated regularly, although the precise definition depends on the patient’s prior cycle pattern.

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Weight and Body Habitus

Marked thinness may be present but is not required.

Athletes with apparently normal weight or body composition can still have significant energy deficiency.

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Eating Disorder History

A history of anorexia nervosa, bulimia nervosa, restrictive eating, recurrent purging, or substantial concern about weight and body image should increase suspicion.

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Restrictive Diets

Experimentation with extreme or highly restrictive dietary regimens may result in inadequate caloric, protein, calcium, vitamin D, or micronutrient intake.

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Fatigue

Severe or persistent fatigue may reflect chronic under-fueling, anemia, endocrine disturbance, excessive training, or other consequences of low energy availability.

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Screening

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Preventive Visits

Important opportunities for screening include preparticipation sports examinations, annual preventive visits, gynecologic examinations, and visits for musculoskeletal injury.

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Screening Questions

Screening should explore body weight changes, menstrual history, dietary intake, body image, training volume, previous stress fractures, exercise habits, and relevant sexual and reproductive history.

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Screening Tools

Several organizations have developed screening recommendations and questionnaires, including sports medicine, pediatric, and collegiate athletic organizations.

The goal is early recognition before irreversible skeletal consequences develop.

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Physical Examination

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Vital Signs and Anthropometrics

Height, weight, pulse, blood pressure, and other vital signs should be recorded at each relevant visit.

Trends over time may be more informative than a single measurement.

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Musculoskeletal Examination

A thorough musculoskeletal examination should be performed, especially when the athlete reports focal pain.

Localized bony tenderness at a high-risk stress fracture site requires careful evaluation.

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Signs of Hormonal or Nutritional Dysfunction

Possible examination findings include dry skin, hair loss, signs of estrogen deficiency, and delayed development of secondary sexual characteristics.

These findings may indicate significant endocrine or nutritional disturbance.

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Laboratory Tests

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Pregnancy Testing

Pregnancy must be excluded in any reproductive-age athlete presenting with amenorrhea.

A beta-human chorionic gonadotropin test is therefore an important initial investigation.

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Gonadotropins

Follicle-stimulating hormone may be measured to help distinguish hypothalamic suppression from primary ovarian dysfunction.

Depending on the clinical setting, luteinizing hormone may also be assessed.

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Thyroid Function

Thyroid-stimulating hormone should be measured because thyroid disease can cause menstrual disturbance and systemic symptoms that resemble components of the triad.

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Prolactin

Serum prolactin should be considered during evaluation of amenorrhea because hyperprolactinemia can suppress reproductive function.

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Estradiol

Estradiol measurement may provide evidence of hypoestrogenism.

Results should be interpreted in conjunction with menstrual history and other endocrine studies.

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Progesterone Challenge

A progesterone withdrawal challenge has historically been used in selected patients to assess estrogen status and outflow tract function, although its role depends on the broader gynecologic evaluation.

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CBC and Metabolic Studies

A complete blood count and comprehensive metabolic panel may help identify anemia, electrolyte abnormalities, nutritional deficiencies, or systemic complications of disordered eating.

Additional laboratory testing should be guided by history and examination.

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Imaging

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Dual-Energy X-Ray Absorptiometry

Dual-energy X-ray absorptiometry (DXA or DEXA) is used to evaluate bone mineral density when reduced bone mass is suspected.

The lumbar spine and hip are commonly assessed.

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Interpretation in Younger Patients

In premenopausal women and adolescents, Z-scores rather than T-scores are generally emphasized because bone density is compared with age-matched controls.

Bone-density results must also be interpreted in the context of clinical risk factors and fracture history.

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Low Bone Mineral Density

A Z-score between approximately −1 and −1.9 in the presence of relevant clinical risk factors may indicate clinically important low BMD in an athlete.

A Z-score of −2.0 or lower is particularly concerning and warrants comprehensive evaluation.

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Plain Radiographs

AP and lateral radiographs may be obtained when focal bone tenderness raises concern for stress fracture.

Early stress injuries may not be visible on radiographs.

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MRI

MRI is the preferred advanced imaging modality for suspected extremity stress fractures because of its excellent sensitivity and specificity.

It can detect bone stress reactions before a visible fracture line develops.

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Comparison With Other Modalities

MRI generally provides more useful information for bone stress injury than nuclear scintigraphy, CT, or ultrasound in most clinical settings.

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Differential Diagnosis

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Hypothalamic Disorders

Amenorrhea may result from hypothalamic disorders unrelated to athletic energy deficiency.

Important considerations include Kallmann syndrome, anorexia nervosa, severe systemic stress, and medication-related suppression.

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Pituitary Disorders

Pituitary causes include prolactinoma, Sheehan syndrome, infiltrative disease such as sarcoidosis, and other pituitary dysfunction.

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Ovarian Disorders

Potential ovarian causes include polycystic ovary syndrome, primary ovarian insufficiency, and Turner syndrome.

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Endocrine Disorders

Other endocrine diseases, including Cushing syndrome and thyroid disorders, can affect menstruation, body composition, and bone health.

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Treatment

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General Principles

Management is complex and requires correction of the underlying energy deficit, treatment of menstrual and skeletal consequences, and management of any associated eating disorder or psychological condition.

A multidisciplinary strategy is often most effective.

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Multidisciplinary Care

The treatment team may include a sports medicine physician, primary-care clinician, dietitian, mental-health professional, gynecologist or endocrinologist, athletic trainer, and orthopedic specialist when bone stress injury is present.

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Nutritional Rehabilitation

The cornerstone of treatment is restoration of adequate energy availability.

This generally requires increasing caloric intake, decreasing excessive exercise expenditure when necessary, or both.

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Nutritional Quality

Dietary counseling should emphasize adequate intake of protein, calcium, vitamin D, carbohydrates, fats, and micronutrients, rather than focusing solely on total calories.

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Psychological Treatment

Psychological counseling is important when body-image disturbance, disordered eating, anxiety, depression, or compulsive exercise is present.

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Cognitive Behavioral Therapy

Cognitive behavioral therapy can help address maladaptive beliefs and behaviors surrounding food, body weight, and exercise.

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Hormonal Therapy

The primary treatment of functional hypothalamic menstrual disturbance is correction of energy deficiency.

Hormonal therapy may be considered in selected patients when menstrual dysfunction or impaired bone health persists despite nutritional rehabilitation.

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Combined Oral Contraceptives

Estrogen-containing oral contraceptives can produce withdrawal bleeding, but they may mask persistent hypothalamic dysfunction and are not a substitute for restoring adequate energy availability.

They should not be relied upon as the primary strategy for improving bone density in energy-deficient athletes.

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Transdermal Estrogen

Physiologic transdermal estrogen replacement may be considered in selected patients with persistent hypoestrogenism and low bone density after adequate nutritional intervention, usually with specialist involvement.

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Calcium and Vitamin D

Adequate calcium and vitamin D intake should be ensured.

A commonly cited target for premenopausal adults is approximately 1,000 mg of calcium and 600 IU of vitamin D daily, although requirements may vary according to age, dietary intake, vitamin D status, and clinical circumstances.

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Medication

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SSRIs

Selective serotonin reuptake inhibitors may be useful when depression, anxiety, or certain eating-disorder-related psychiatric symptoms coexist.

They do not correct low energy availability itself.

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Bisphosphonates

Bisphosphonates are generally used very cautiously in young women because of their long skeletal retention and reproductive considerations.

They may be considered only in unusual severe cases under specialist supervision rather than as routine treatment for the triad.

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Stress Fracture Treatment

Most stress injuries are treated initially with activity modification, protection from impact loading, correction of nutritional and hormonal abnormalities, and gradual return to activity after healing.

Management depends strongly on fracture site and risk of progression.

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Surgery

Surgery may be required when a stress fracture fails appropriate nonoperative treatment or when the fracture occurs at a high-risk location with substantial potential for delayed healing, displacement, or nonunion.

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High-Risk Stress Fractures

Sites traditionally considered high risk include the femoral neck, anterior tibial cortex, medial malleolus, patella, tarsal navicular, and base of the fifth metatarsal.

The exact need for fixation depends on fracture orientation, displacement, symptoms, and athletic demands.

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Follow-Up

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Team Communication

Close communication among members of the multidisciplinary team is essential.

Nutritional, psychological, menstrual, and orthopedic issues should be managed together rather than independently.

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Clinical Monitoring

Follow-up should assess energy intake, body weight trends, menstrual recovery, psychological health, training volume, pain, stress injuries, and return-to-sport readiness.

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Repeat Laboratory Studies

Laboratory studies may be repeated as needed to assess improvement in endocrine, nutritional, or metabolic abnormalities.

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Repeat Bone Density Testing

DXA may be repeated periodically when clinically indicated.

In persistent or severe cases, reassessment at approximately yearly intervals may be appropriate because meaningful changes in bone density occur slowly.

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Prognosis

Outcome depends heavily on early recognition and restoration of adequate energy availability.

Menstrual function and many metabolic abnormalities may recover with treatment, but loss of peak bone mass during adolescence may not be completely reversible.

This makes early screening particularly important.

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Complications

Potential complications include recurrent stress fractures, delayed or incomplete bone healing, low peak bone mass, osteopenia or osteoporosis, reproductive dysfunction, chronic fatigue, and psychological consequences of disordered eating.

Severe energy deficiency may also affect cardiovascular, gastrointestinal, immune, and endocrine function.

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Patient Monitoring

Long-term monitoring should continue until energy availability is adequate, menstrual function is stable, bone stress injuries have healed, and skeletal health is improving.

Athletes should return to unrestricted sport progressively, with decisions based on medical stability, nutritional recovery, bone health, and risk of recurrent injury.

Orthopaedic Surgery - Extensor Tendon Laceration

Basics

Extensor tendon lacerations are relatively common because the extensor tendons lie superficially along the dorsum of the hand and wrist, making them vulnerable to direct injury.

Disruption of an extensor tendon often produces an immediate change in the resting posture of the involved finger or hand.

Functional Consequences

The specific deformity depends on the level of injury.

A distal injury near the distal interphalangeal (DIP) joint may produce a mallet-type posture, while an injury involving the extensor mechanism over the proximal interphalangeal (PIP) joint may lead to a boutonniere pattern.

Extensor tendon injuries may impair active extension of the fingers, thumb, or wrist.

Typical Patient Population

These injuries occur most commonly in young adults.

Males are affected more frequently than females.

Classification

Extensor tendon lacerations are generally classified as partial or complete, based on the amount of tendon disruption identified during examination or wound exploration.

Timing of Repair

Many complete extensor tendon lacerations require operative repair.

Repair may be performed in the emergency department or operating room depending on the level and complexity of injury.

Because the extensor mechanism has relatively limited retraction and is not constrained within a pulley system like the flexor tendons, repair can often still be performed successfully within approximately 2 weeks of injury.

Epidemiology

Extensor tendon lacerations are less common overall than flexor tendon injuries.

Etiology

The usual mechanism is a sharp laceration over the dorsal hand, finger, or wrist.

The superficial position of the extensor tendons makes them particularly susceptible to knives, glass, machinery, and other penetrating injuries.

Fight-Bite Injury

A laceration over the dorsal metacarpophalangeal joint may result from striking another person’s teeth.

This so-called fight bite is particularly important because the tendon, joint capsule, and MCP joint may be contaminated with oral flora.

Associated Conditions

Extensor tendon injuries may occur together with open fractures, open joints, retained foreign bodies, or traumatic arthrotomy.

These associated injuries may substantially alter management.

Diagnosis

Signs and Symptoms

A dorsal laceration may reveal the tendon ends directly within the wound, sometimes with only minimal exploration.

A change in finger posture or loss of active extension should raise immediate concern for tendon disruption.

Loss of Active Extension

The patient may be unable to actively extend one or more joints distal to the level of injury.

The pattern of weakness helps localize the injured tendon segment.

Mallet Deformity

An injury involving the terminal extensor tendon at the DIP joint causes inability to actively extend the distal phalanx.

The fingertip therefore rests in flexion, producing a mallet deformity.

Boutonniere Deformity

Disruption of the central slip over the PIP joint may eventually produce a boutonniere deformity, characterized by PIP flexion with DIP extension or hyperextension.

This deformity may not always be immediately apparent after injury.

Independent Extensor Tendons

The index and small fingers possess additional independent extensor tendons.

A partial injury may therefore produce only subtle loss of extension strength or range of motion rather than complete inability to extend.

Physical Examination

General Examination

All fingers should be examined individually for active extension.

The wrist should also be assessed for range of motion and extension strength.

Neurologic Examination

A complete neurologic examination should be performed before administration of local anesthetic.

This helps document any associated nerve injury.

Local Anesthetic Block

After the neurologic examination, a local field block can be useful to reduce pain and allow a more reliable assessment of active tendon function.

Pain alone can otherwise limit motion and mimic tendon disruption.

Extrinsic Extensor Testing

One useful method is to place the patient’s palm flat on a table and ask the patient to lift each finger individually away from the surface.

Failure to elevate a specific digit suggests loss of its extrinsic extensor function.

Wound Exploration

The wound should be carefully inspected for partial or complete tendon disruption.

Exploration should also assess for contamination, foreign material, joint penetration, and associated fracture.

Laboratory Tests

Routine laboratory studies are not required for diagnosis.

If operative management is planned, standard preoperative testing may be obtained according to the patient’s age, comorbidities, and anesthetic requirements.

Imaging

Plain Radiographs

AP and lateral radiographs should be obtained when there is concern for an associated fracture, dislocation, or retained foreign body.

Radiographs are particularly important in high-energy trauma or fight-bite injuries.

Differential Diagnosis

Extensor Avulsion Injury

An avulsion injury of the extensor mechanism may cause the same functional deficit as a tendon laceration.

For example, a bony avulsion at the DIP joint can produce a mallet deformity without a sharp tendon transection.

Fracture

A fracture involving the dorsal aspect of the phalanx or metacarpal can also impair active extension and should be excluded radiographically.

Treatment

General Principles

Treatment priorities include wound care, prevention of infection, restoration of tendon continuity when necessary, and protection of the repair during healing.

Management depends on the location, depth, contamination, and completeness of the tendon injury.

Tetanus Prophylaxis

Tetanus immunization status should be reviewed.

A booster or tetanus toxoid should be administered when indicated.

Antibiotics

Antibiotics may be required for contaminated wounds, open fractures, open joints, or bite injuries.

The choice of antibiotic should reflect the likely organisms and mechanism of injury.

Fight-bite wounds require coverage for human oral flora rather than routine skin flora alone.

Irrigation and Debridement

Contaminated wounds should undergo thorough irrigation and debridement.

Devitalized tissue and foreign material should be removed.

Temporary Skin Closure

The skin may be temporarily closed when appropriate until definitive tendon repair is performed.

Grossly contaminated wounds may require delayed closure.

Splinting

The injured hand or finger is generally splinted in extension or a protected position to reduce tendon separation and prevent further injury.

Specialist Referral

Orthopaedic or hand-surgery consultation is appropriate for complete tendon lacerations, complex wounds, associated fracture or joint injury, and uncertain tendon function.

Physical Therapy and Hand Therapy

Rehabilitation depends on the anatomic zone of injury, tendon involved, repair technique, and associated injuries.

The goal is to protect tendon healing while minimizing stiffness, adhesions, and loss of function.

Early Motion

When the repair is sufficiently strong, carefully controlled passive and active motion may be introduced early.

Modern rehabilitation protocols attempt to balance tendon protection with prevention of adhesions.

Surgery

Tendon Repair

For a complete laceration requiring repair, the tendon ends are identified, mobilized, approximated, and sutured.

Nonabsorbable sutures such as 4-0 polypropylene or braided polyester have traditionally been used, with the exact repair technique depending on tendon level and thickness.

Suture Technique

Mattress-type or other core suture configurations may be used to obtain secure approximation of the tendon ends.

The repair should restore appropriate tendon length and alignment without excessive tension.

Proximal Injuries

Lacerations at the level of the wrist or more proximally are usually repaired in the operating room because multiple tendons may be involved and exposure is more extensive.

Comparison With Flexor Tendon Repair

Extensor tendon repair is generally less technically demanding than flexor tendon repair at the same level.

Extensor tendons are not surrounded by a tight pulley system, and postoperative gliding stresses are often lower.

Delayed Repair

Because of this anatomy, definitive repair can sometimes be delayed for up to approximately 2 weeks without a substantial adverse effect on outcome, provided the wound and tendon remain suitable for reconstruction.

Postoperative Splinting

Protective splinting is required after repair while the tendon heals.

The exact splint position and duration depend on the zone of injury and rehabilitation protocol.

Follow-Up

Prognosis

The prognosis is generally good after complete and appropriately performed repair, particularly when the injury is isolated and rehabilitation is well supervised.

Factors Affecting Outcome

Outcome is influenced by the level of injury, wound contamination, associated fracture or joint injury, adequacy of repair, scar formation, and adherence to postoperative therapy.

Complications

Infection

Infection can occur, especially in contaminated wounds, open joints, and bite injuries.

Fight-bite injuries are particularly high risk.

Open Joint Injury

A laceration that penetrates the joint can lead to septic arthritis if not recognized and treated appropriately.

Repair Failure

The tendon repair may rupture if it is overloaded before adequate healing occurs.

Scarring

Scar formation may limit tendon glide and contribute to stiffness or cosmetic changes.

Adhesions

Adhesions between the repaired tendon and surrounding tissue may restrict excursion and reduce active extension.

Loss of Function

Persistent extension lag, stiffness, weakness, or deformity may remain if healing is incomplete or rehabilitation is inadequate.

Patient Monitoring

Follow-up should assess wound healing, infection, tendon integrity, active extension, passive motion, scar formation, and adherence to splinting and therapy.

Serial examination is important to detect early repair failure, progressive stiffness, or adhesions so that rehabilitation can be adjusted promptly.

Orthopaedic Surgery - Ewing Sarcoma

Basics

Ewing sarcoma is a high-grade malignant small round-cell tumor that most commonly arises in bone during childhood and adolescence.

It frequently affects the long bones, pelvis, and spine, with the diaphysis or metadiaphysis of long bones being characteristic locations.

Bone pain is the most common presenting symptom.

Systemic Features

Unlike many other primary bone tumors, Ewing sarcoma may produce systemic manifestations.

Patients may develop fever, malaise, weight loss, leukocytosis, and an elevated erythrocyte sedimentation rate, sometimes creating a clinical picture that resembles infection.

Spinal Disease

When the tumor involves the spine, patients may develop nerve-root irritation, radicular symptoms, or neurologic dysfunction from local extension.

Classification

Ewing sarcoma has traditionally been staged using the Musculoskeletal Tumor Society, or Enneking, staging system.

Because Ewing sarcoma is considered a high-grade malignancy, localized lesions are frequently classified as high-grade tumors, and many extend beyond the original bone compartment.

Metastatic Disease at Presentation

Approximately 20–25% of patients may have detectable metastatic disease at diagnosis.

The lungs and other bones are the most common metastatic sites.

Synonym

Ewing sarcoma has historically been categorized among the small round-cell sarcomas.

Epidemiology

Frequency

Ewing sarcoma is the second most common primary malignant bone tumor of childhood, after osteosarcoma.

Age

The disease occurs predominantly in children, adolescents, and young adults.

Most patients are younger than 25 years, while occurrence in children younger than 3 years is uncommon.

Sex

Males are affected somewhat more frequently than females.

Ethnic Distribution

Ewing sarcoma is considerably more common in individuals of European ancestry and is rare in many non-Caucasian populations.

Genetics

A characteristic molecular abnormality is a reciprocal chromosomal translocation, most commonly t(11;22)(q24;q12).

This rearrangement produces an EWSR1-FLI1 fusion gene, which encodes an abnormal transcription factor involved in tumor development.

Other Molecular Rearrangements

Less common EWSR1-related fusion partners can occur, but EWSR1-FLI1 is the classic and most frequent abnormality.

Molecular testing is useful in confirming the diagnosis when the histologic appearance is uncertain.

Etiology

The exact cause of Ewing sarcoma is unknown.

There is no established environmental exposure or inherited syndrome responsible for most cases.

The characteristic chromosomal rearrangement is acquired within the tumor cells rather than usually being inherited.

Diagnosis

Signs and Symptoms

The typical patient presents with localized bone pain and tenderness that have been present for several weeks or months.

Symptoms may initially be attributed to a sports injury or musculoskeletal strain.

Soft-Tissue Mass

As the tumor enlarges and extends beyond the cortex, a palpable soft-tissue mass may develop.

The mass may be firm, tender, and associated with local warmth or swelling.

Constitutional Symptoms

Some patients develop fever, fatigue, malaise, anorexia, or weight loss.

These symptoms, together with elevated inflammatory markers, can make Ewing sarcoma difficult to distinguish initially from osteomyelitis.

Pathologic Fracture

Occasionally, the tumor weakens the involved bone sufficiently to produce a pathologic fracture.

Physical Examination

Early Disease

The physical examination may be relatively normal during the early stages.

Pain can precede a palpable mass or visible swelling.

Advanced Local Disease

As the soft-tissue component enlarges, the examiner may identify swelling, tenderness, warmth, or a palpable mass over the involved bone.

Neurologic Examination

Patients with spinal or pelvic tumors should undergo careful neurologic examination because nerve roots, the spinal cord, or major peripheral nerves may be affected by local extension.

Laboratory Tests

Complete Blood Count

A complete blood count should be obtained.

Leukocytosis may occur, although it is nonspecific.

ESR and Other Studies

The erythrocyte sedimentation rate may be elevated.

Electrolytes and general baseline laboratory studies are also obtained before systemic therapy.

Bone Marrow Evaluation

Bone marrow aspiration and biopsy have historically been included in staging because marrow involvement may occur.

Their use depends on contemporary staging protocols and the presence of other evidence suggesting disseminated disease.

Biopsy

Tissue diagnosis is mandatory before definitive treatment.

When the tumor has a substantial soft-tissue component, biopsy can often be performed through the extraosseous portion, avoiding unnecessary penetration of additional uninvolved bone.

Biopsy should be carefully planned with the orthopedic oncology team so that the biopsy tract can be removed during definitive resection.

Imaging

Plain Radiographs

Plain radiographs are essential for initial evaluation.

They commonly demonstrate an aggressive lytic lesion arising in the diaphysis or metadiaphysis, although appearances vary.

The fibula is one of the characteristic long-bone sites.

Bone Destruction

Radiographs may show a large region of permeative or destructive bone loss.

The margins are often poorly defined, reflecting aggressive tumor growth.

Reactive Bone Formation

Variable amounts of reactive new bone may be present.

This can create a mixed lytic and sclerotic appearance.

Periosteal Reaction

A characteristic feature is a layered periosteal reaction sometimes described as an “onion-skin” appearance.

Other aggressive periosteal patterns may also occur.

Soft-Tissue Extension

The tumor commonly extends through the cortex into adjacent soft tissue.

A large soft-tissue mass may be present despite relatively modest radiographic bone destruction.

Early Radiographs

Very early disease may occasionally be subtle or even appear relatively normal on plain radiographs.

Persistent unexplained bone pain therefore warrants further evaluation when clinical concern remains high.

MRI

MRI is the most important modality for defining the local extent of the primary tumor.

It demonstrates medullary involvement, soft-tissue extension, neurovascular relationships, adjacent joint involvement, and the longitudinal extent of disease.

MRI is also essential for surgical planning.

Chest Imaging

Because the lung is a common site of metastasis, staging includes chest imaging.

Chest CT is more sensitive than plain chest radiography for detecting pulmonary metastases.

Skeletal Staging

Whole-body skeletal imaging is performed to search for bone metastases.

Historically, technetium bone scintigraphy has been used, although current staging may incorporate additional whole-body imaging according to institutional protocols.

Pathological Findings

Small Round Blue Cells

Histologically, Ewing sarcoma consists of numerous small, round, relatively uniform malignant cells that stain deeply blue on hematoxylin and eosin preparations.

Cellular Appearance

The cells are densely packed and contain scant cytoplasm.

Cell borders may be indistinct, giving the microscopic field a somewhat blurred or “out-of-focus” appearance.

Immunohistochemistry

Immunohistochemical staining is used to support the diagnosis.

Strong membranous expression of CD99 is characteristic but not completely specific.

Molecular demonstration of an EWSR1-related fusion provides additional diagnostic confirmation.

Differential Diagnosis

Osteomyelitis

Ewing sarcoma is most commonly confused clinically with osteomyelitis.

Both can present with pain, fever, elevated inflammatory markers, and an aggressive-appearing bone lesion.

Biopsy is often necessary when the distinction is uncertain.

Neuroblastoma

Metastatic neuroblastoma can mimic Ewing sarcoma histologically, particularly in children younger than 5 years.

Age, clinical context, immunohistochemical staining, and molecular testing help distinguish the two.

Lymphoma

Primary or secondary lymphoma involving bone may also resemble Ewing sarcoma.

This is especially important in younger children.

Appropriate lymphoid markers help establish the diagnosis.

Rhabdomyosarcoma

Rhabdomyosarcoma is another small round-cell malignancy that may enter the differential diagnosis.

Muscle-specific markers such as desmin and myogenic regulatory proteins help distinguish it.

Eosinophilic Granuloma

Langerhans cell histiocytosis, particularly eosinophilic granuloma, may produce a destructive bone lesion and should be considered in children and young adults.

Metastatic Disease

In adults, particularly those older than approximately 30 years, metastatic carcinoma and other secondary malignancies should also be considered.

Treatment

General Principles

Treatment requires multimodal therapy.

Systemic chemotherapy is essential because Ewing sarcoma is regarded as a systemic disease even when metastases are not detectable at diagnosis.

Local control is achieved with surgery, radiotherapy, or a combination of both.

Chemotherapy

Multiagent chemotherapy is a central component of treatment.

Specific agents and treatment schedules vary according to current pediatric or adult oncology protocols.

The goals are to treat micrometastatic disease, shrink the primary tumor, and reduce the risk of recurrence.

Radiotherapy

Ewing sarcoma is relatively radiosensitive.

External-beam radiotherapy may be used as definitive local treatment when surgery would cause unacceptable morbidity, or it may be combined with surgery when margins are inadequate or local control remains uncertain.

Radiation Planning

The treatment field must encompass the involved tumor volume while protecting surrounding normal structures as much as possible.

Long-term radiation effects are especially important in children.

Surgery

Role of Surgery

Surgery has become an important method of obtaining local control whenever the tumor can be removed safely with an acceptable functional result.

Surgical Margin

When resection is performed, the objective is a wide surgical margin with complete removal of the tumor.

Limb Salvage

Limb-salvage surgery is possible in the great majority of extremity cases.

Amputation is now uncommon and is reserved for selected unresectable or severely complicated lesions.

Expendable Bones

Wide resection is particularly suitable when the tumor involves relatively expendable bones such as the fibula, iliac wing, or clavicle, where removal may produce less functional loss.

Physical Therapy

Physical therapy is used during and after treatment to maintain joint range of motion, muscle strength, mobility, and functional independence.

Rehabilitation requirements vary substantially according to tumor location and the reconstructive procedure performed.

Follow-Up

Prognosis

Modern multimodal treatment has substantially improved survival.

Historical series report approximately 60–70% 5-year survival for patients treated with contemporary chemotherapy and local control, with outcomes being best for localized disease.

Adverse Prognostic Sites

Tumors arising in the pelvis or spine generally have a less favorable prognosis than tumors of the extremities.

This relates partly to larger tumor size, difficulty obtaining wide surgical margins, and proximity to critical structures.

Metastatic Disease

Patients presenting with metastases have a substantially worse prognosis than those with localized tumors.

Pulmonary-only metastases generally carry a better prognosis than widespread bone or bone-marrow metastases.

Complications

Radiation-Associated Sarcoma

A secondary sarcoma may rarely arise within a previous radiation field several years after treatment.

Historical rates of post-radiation sarcoma have been approximately 2–4% in some series.

Pathologic or Treatment-Related Fracture

Fracture may occur in irradiated or surgically reconstructed bone.

The proximal femur is particularly vulnerable after treatment involving this region.

Osteonecrosis

Patients treated for pelvic or proximal femoral tumors may develop osteonecrosis of the femoral head, particularly after radiation or extensive local therapy.

Functional Impairment

Muscle weakness, joint stiffness, growth disturbance, limb-length discrepancy, and gait abnormalities may develop following surgery or radiation in skeletally immature patients.

Metastatic Surveillance

Pulmonary Metastases

The lungs are a common site of recurrence.

Historically, chest CT has been obtained every 3–4 months for the first 2–3 years, then approximately every 6 months until 5 years, with less frequent long-term surveillance thereafter.

The exact schedule should follow the treating oncology protocol.

Bone Metastases

Bone metastases have traditionally been monitored using radionuclide bone scanning or other whole-body imaging.

Surveillance is most intensive during the first several years after treatment, when recurrence risk is greatest.

Local Recurrence

Local recurrence may occur despite therapy.

Historical rates have been approximately 10–30% after chemotherapy combined with radiation and lower, around 5–10%, after chemotherapy combined with complete surgical resection, although rates vary substantially according to tumor site, stage, and margin status.

Imaging for Local Recurrence

MRI or CT can be used to evaluate the primary site when no large metallic prosthesis interferes with imaging.

In patients with reconstructive implants, surveillance may rely more heavily on plain radiographs, physical examination, and appropriately selected cross-sectional imaging.

Patient Monitoring

Follow-up should include surveillance for local recurrence, pulmonary metastases, skeletal metastases, treatment toxicity, secondary malignancy, growth disturbance, fracture, and functional impairment.

The first several years after treatment require the most intensive surveillance because the risk of recurrence is highest during this period.

Orthopaedic Surgery - Eosinophilic Granuloma

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Basics

Eosinophilic granuloma is the osseous manifestation of Langerhans cell histiocytosis (LCH) and is the most common skeletal presentation of this disease spectrum.

LCH is now regarded as a clonal disorder of Langerhans-type cells rather than a group of entirely separate diseases.

Bone involvement may occur as a solitary lesion, as multifocal skeletal disease without visceral involvement, or as multisystem disease involving bone together with other organs.

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Sites of Involvement

Commonly affected bones include the skull, ribs, pelvis, vertebral column, mandible, and diaphyses of long bones.

However, virtually any bone can be involved.

A single skeletal lesion is more common than multifocal bone disease.

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Historical Classification of LCH

Historically, LCH was divided into three separate clinical entities: eosinophilic granuloma, Hand–Schüller–Christian disease, and Letterer–Siwe disease.

These names are now largely considered historical descriptions along a spectrum of LCH severity.

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Eosinophilic Granuloma

The term eosinophilic granuloma traditionally referred to a localized or solitary skeletal lesion without significant visceral disease.

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Hand–Schüller–Christian Disease

This historical term described multifocal skeletal involvement with systemic disease affecting organs such as the skin, lymph nodes, liver, or spleen.

The classic but uncommon triad consists of lytic skull lesions, exophthalmos, and diabetes insipidus.

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Letterer–Siwe Disease

Letterer–Siwe disease was the historical name for an aggressive multisystem form occurring predominantly in very young children, particularly those younger than 2 years.

Features may include lymphadenopathy, hepatosplenomegaly, skin involvement, and pulmonary disease, and the condition can be life-threatening.

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Synonyms

Older terminology includes histiocytosis X and reticuloendotheliosis.

The preferred current term is Langerhans cell histiocytosis.

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Epidemiology

LCH is rare.

Skeletal disease is seen most frequently in patients younger than 30 years, with peak presentation commonly between approximately 5 and 10 years of age.

Males are affected more often than females, with a reported ratio of approximately 2:1.

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Etiology

The precise initiating cause is not fully understood.

LCH is characterized by abnormal accumulation and proliferation of pathologic Langerhans-type cells, accompanied by a prominent inflammatory response.

This process can cause focal bone resorption and lytic destruction.

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Diagnosis

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General Principles

Diagnosis is based on the combination of clinical presentation, imaging, and histopathologic confirmation when required.

Because eosinophilic granuloma may mimic infection or malignancy, biopsy is often necessary unless the clinical and radiographic appearance is highly characteristic.

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Spinal LCH

A characteristic spinal presentation may include vertebral body collapse, preservation of the adjacent intervertebral disc spaces, and absence of a significant paraspinal soft-tissue mass.

This pattern is highly suggestive of LCH.

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Percutaneous Biopsy

Percutaneous needle biopsy is an effective means of establishing the diagnosis in uncertain lesions and can often avoid a larger open procedure.

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Signs and Symptoms

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Pain

Localized bone pain is one of the most common symptoms.

Pain may be gradual or relatively acute and is generally centered over the involved bone.

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Swelling and Tenderness

The lesion may produce localized swelling, tenderness, and warmth.

These inflammatory features can cause the condition to resemble osteomyelitis.

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Fever

Low-grade fever may occasionally be present, particularly with more active or multifocal disease.

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Physical Examination

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Skeletal Examination

The skull and accessible skeleton should be palpated for tender areas, swelling, or palpable bony defects.

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Orbital Involvement

Orbital lesions may occur, often in the superolateral orbit.

Patients may develop a visible mass, proptosis, ptosis, erythema, or visual disturbance, and the appearance can sometimes be mistaken for infection.

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Spine Examination

The spine should be inspected and gently percussed for focal tenderness.

Any evidence of deformity or neurologic abnormality should prompt further assessment.

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Gait

The patient’s gait should be observed for limping or reluctance to bear weight, particularly when the pelvis or lower extremity is involved.

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Laboratory Tests

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Inflammatory Markers

The erythrocyte sedimentation rate may be elevated, although the finding is nonspecific.

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Peripheral Eosinophilia

Peripheral eosinophilia may occur but is neither required nor diagnostic.

Normal laboratory results do not exclude LCH.

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Imaging

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Plain Radiographs

Radiographs commonly demonstrate well-defined, sharply marginated lytic lesions, often described as “punched-out.”

The appearance varies according to location and stage of healing.

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Healing Response

As the lesion heals, a rim of reactive or sclerotic bone may form along the periphery.

This represents reparative bone formation.

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Cortical Changes

The lesion may produce endosteal scalloping, cortical destruction, expansion, or periosteal reaction.

Because the cortex may be eroded unevenly from within, some skull lesions develop a characteristic beveled or “hole-within-a-hole” appearance.

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Skull Lesions

Calvarial lesions are classically sharply defined and lytic.

Asymmetric destruction of the inner and outer tables may produce a beveled-edge appearance.

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Vertebra Plana

In the spine, severe collapse of the vertebral body may produce vertebra plana, in which the vertebral body becomes a thin, flattened wafer of bone.

The adjacent disc spaces are usually preserved.

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Mandibular and Maxillary Lesions

In the jaws, loss of supporting alveolar bone may make the teeth appear suspended within the lesion.

This produces the classic “floating tooth” appearance.

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Bone Scan

Bone scintigraphy is not the most reliable screening study because some LCH lesions may demonstrate little or no increased tracer uptake.

A negative bone scan therefore does not exclude disease.

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Pathological Findings

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Langerhans Cells

Histologically, the lesion contains sheets of abnormal Langerhans cells with abundant pale cytoplasm.

The nuclei often demonstrate longitudinal grooves, producing a characteristic coffee-bean appearance.

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Immunohistochemistry

Langerhans cells characteristically express CD1a and S-100, and contemporary diagnosis also commonly uses langerin, or CD207.

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Inflammatory Background

The abnormal cells are surrounded by a mixed inflammatory infiltrate.

Eosinophils are often prominent, although lymphocytes, neutrophils, macrophages, and multinucleated giant cells may also be present.

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Differential Diagnosis

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Ewing Sarcoma

Ewing sarcoma may present with bone pain, fever, and an aggressive lytic lesion.

Clinical and imaging overlap may be substantial, making biopsy necessary in suspicious cases.

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Lymphoma

Primary lymphoma of bone can produce pain and a destructive lesion and should be considered, particularly when the radiographic appearance is atypical.

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Osteomyelitis

Osteomyelitis is one of the most important mimics because both conditions may present with pain, warmth, fever, elevated inflammatory markers, and bone destruction.

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Great Imitator

Eosinophilic granuloma has historically been called a “great imitator” because its clinical and radiographic features may resemble both infection and neoplasm.

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Treatment

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General Principles

Many solitary bone lesions are self-limiting and may heal spontaneously.

Treatment therefore depends on symptoms, anatomic location, structural risk, and whether multisystem disease is present.

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Observation

Observation is appropriate for selected patients with a characteristic solitary lesion, mild symptoms, and no impending fracture or danger to a joint surface.

Serial radiographs are used to confirm healing.

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Curettage

Curettage may be performed when the diagnosis is uncertain, symptoms are persistent, or the lesion is structurally significant.

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Bone Grafting

Bone grafting may be added after curettage if a large defect remains or if mechanical support is required.

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Steroid Injection

Intralesional corticosteroid injection has been used successfully for selected solitary lesions.

Methylprednisolone acetate is one commonly used agent and may promote symptom resolution and bone healing.

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Impending Pathologic Fracture

If the lesion significantly weakens the bone and a pathologic fracture appears imminent, operative curettage with bone grafting, with or without fixation, may be required.

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Articular Surface at Risk

Lesions threatening a joint surface may also warrant surgical treatment to prevent collapse or structural damage.

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Treatment of Multifocal or Systemic Disease

Patients with multiple skeletal lesions or visceral involvement require assessment by a multidisciplinary team.

Systemic treatment may be necessary, with therapy tailored to the extent of disease and organs involved.

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Chemotherapy

Historically, agents such as corticosteroids, methotrexate, and doxorubicin have been used in multisystem disease.

Modern systemic treatment depends on disease extent, risk-organ involvement, age, and current hematology-oncology protocols.

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Vertebra Plana

Vertebral collapse caused by LCH often has a favorable natural history in children.

The lesion may heal spontaneously, and partial restoration of vertebral body height can occur over time.

Neurologic compromise is uncommon when there is no epidural extension or instability.

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Surgery

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General Role

Surgery is unnecessary in most uncomplicated solitary lesions.

Its role is primarily diagnostic or mechanical rather than oncologic.

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Indications

Operative treatment may be considered when there is failure of nonoperative management, diagnostic uncertainty, impending pathologic fracture, substantial structural weakness, articular involvement, or neurologic compression.

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Curettage and Fixation

Curettage with bone grafting and internal fixation may be used when the involved bone is at substantial risk of fracture or has already fractured in an unstable pattern.

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Follow-Up

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Prognosis

The prognosis for isolated skeletal LCH is generally excellent.

Many lesions resolve with observation or limited treatment.

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Pathologic Fracture

Pathologic fractures can occur through weakened bone.

These fractures generally heal well with appropriate nonoperative or surgical treatment.

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Patient Monitoring

When the diagnosis is secure and there is no structural danger, the lesion can be followed with serial plain radiographs until healing is evident, often over several months.

Clinical follow-up should assess pain, swelling, function, skeletal stability, and development of new lesions or systemic symptoms.

Persistent pain, progressive destruction, new masses, neurologic findings, or evidence of multisystem disease should prompt reassessment and specialist referral.

Orthopaedic Surgery - Enchondroma

Basics

An enchondroma is a common benign cartilaginous tumor composed of mature hyaline cartilage within the medullary canal, usually arising in the metaphysis or metadiaphysis of bone.

It most frequently involves the small tubular bones of the hands and feet, particularly the proximal phalanges.

Enchondromas may also occur in the distal femur, proximal humerus, and tibia but are uncommon in the spine, pelvis, and ribs.

They do not arise in bones formed entirely by membranous ossification.

Growth Pattern

A typical enchondroma is a nongrowing or very slowly changing lesion once skeletal maturity is reached.

Cartilage growth usually ceases in adulthood, although progressive mineralization may make the lesion appear radiographically different over time.

Malignant Potential

Small peripheral appendicular lesions are generally benign.

Large cartilaginous tumors arising in the axial skeleton carry a greater concern for malignant behavior and require more careful evaluation.

Epidemiology

Enchondroma is one of the most common benign bone tumors.

It is the most common bone tumor involving the small bones of the hands and feet and represents the most common destructive-appearing lesion encountered in the hand.

Age and Sex

Enchondromas can occur at any age but are recognized more frequently in adults.

In children, many lesions remain radiographically occult because the cartilaginous matrix has not yet mineralized.

Males and females are affected approximately equally.

Etiology

The exact origin is uncertain.

One proposed mechanism is persistence of epiphyseal growth cartilage that fails to remodel normally and remains within the metaphysis.

Another possibility is persistence of part of the original cartilaginous anlage of the developing bone.

Associated Conditions

Enchondroma Protuberans

Enchondroma protuberans is an unusual eccentric variant in which the cartilaginous lesion causes focal cortical bulging or outward extension.

Enchondromatosis

Enchondromatosis describes the presence of multiple enchondromas involving several bones.

The lesions may occur within the medullary cavity or occasionally closer to the cortical surface.

Ollier Disease

Ollier disease is a form of multiple enchondromatosis that characteristically has an asymmetric distribution.

Although multiple bones can be involved, one side of the body is often affected more extensively than the other.

Familial clustering has rarely been described, but a straightforward inherited pattern is not typical.

Maffucci Syndrome

Maffucci syndrome consists of multiple enchondromas associated with soft-tissue vascular lesions, particularly hemangiomas.

The hands and feet are commonly affected.

Diagnosis

General Clinical Features

Most solitary enchondromas are asymptomatic.

They are frequently discovered incidentally when radiographs are obtained for an unrelated problem.

Pain

Enchondromas of the long bones should not ordinarily produce pain.

When a patient with an intramedullary cartilage lesion has pain, another explanation should be sought, including arthritis, tendinopathy, bursitis, fracture, or a more aggressive cartilaginous tumor such as chondrosarcoma.

Pathologic Fracture

In the hand, enchondromas may weaken the involved phalanx sufficiently to cause a pathologic fracture.

Pain in these patients is usually attributable to the fracture rather than to the tumor itself.

Digital Enlargement

If the lesion occupies a substantial portion of a small tubular bone, mild enlargement or expansion of the affected digit may be visible.

Incidental Discovery

Many lesions are identified on routine radiographs or during imaging performed for another condition.

Enchondromas may also demonstrate increased uptake on bone scintigraphy.

Malignant Transformation

Malignant transformation of a solitary enchondroma is uncommon.

When it occurs, it is more often encountered in long bones than in the small bones of the hand.

Enchondromatosis

Clinical Recognition

Multiple enchondromatosis is often recognized by approximately 10 years of age because of palpable masses, limb shortening, asymmetric growth, or angular deformity.

Distribution

Although lesions may occur on both sides of the body, involvement is frequently much greater on one side.

Within a single extremity, the distribution may also be asymmetric.

Growth Disturbance

When lesions involve the region near the physis, affected bones may become shortened, widened, or deformed.

The severity of deformity depends on the number, size, and location of the lesions.

Course After Puberty

The active growth disturbance generally decreases after skeletal maturity because cartilaginous growth slows substantially.

Maffucci Syndrome

Patients with Maffucci syndrome have multiple enchondromas together with soft-tissue vascular malformations.

Phleboliths may be visible within hemangiomas on radiographs.

The hands and feet are especially commonly affected.

Physical Examination

The involved bone should be examined for tenderness, enlargement, deformity, and an associated soft-tissue mass.

Tenderness should raise concern for fracture, another local pain generator, or a more aggressive process.

Imaging

Plain Radiographs

Plain radiographs in at least two planes are the principal imaging studies.

In children with suspected multifocal disease, additional skeletal imaging may be needed to evaluate for other lesions.

Serial Radiographs

Comparison with previous studies or serial radiographs obtained approximately every 3–6 months can help determine whether the lesion is stable.

A typical enchondroma does not enlarge significantly after skeletal maturity.

Typical Radiographic Appearance

The classic lesion is a well-defined central lytic abnormality within the metaphysis or metadiaphysis.

Mild endosteal scalloping may occur.

Intralesional mineralization is variable.

Cartilage Matrix Mineralization

Typical chondroid mineralization patterns are described as rings and arcs, stippled, punctate, or popcorn-like calcifications.

These reflect enchondral mineralization within the cartilaginous matrix.

Small Tubular Bones

In the phalanges and other small tubular bones, the lesion may occupy most or all of the shaft.

The cortex generally remains intact but may appear mildly expanded or thinned.

Pediatric Appearance

In children, enchondromas may remain almost completely radiolucent because the cartilage has not mineralized.

They may therefore resemble a unicameral bone cyst.

Changes With Age

As patients mature, the initially radiolucent cartilage commonly undergoes increasing enchondral ossification and calcification.

This produces the classic ring-and-stipple appearance seen more often in adults.

Dense Mineralization

Occasionally, mineralization becomes so extensive that the lesion resembles a bone infarct.

Periosteal Reaction

A typical uncomplicated enchondroma does not produce a periosteal reaction.

The development of aggressive periosteal change should raise concern for another diagnosis.

Imaging in Enchondromatosis

Radiographs demonstrate multiple radiolucent cartilaginous lesions, usually centered in the metaphyses.

Calcification may appear irregular and longitudinal or streak-like as the lesions extend from the region of the physis.

Cortical Expansion

Affected bones may expand internally because the enchondromas interfere with normal metaphyseal remodeling.

As a result, the bone may fail to develop its normal tubular contour and can develop clubbed or broadened ends.

Distribution Within Bone

Lesions may be intracortical, subcortical, metaphyseal, or occasionally epiphyseal.

The epiphysis and diaphysis are usually relatively spared, although severe disease may involve nearly the entire bone.

MRI

Signal Characteristics

On MRI, an enchondroma typically appears as a well-circumscribed, lobulated lesion with low signal intensity on T1-weighted images and high signal intensity on T2-weighted images.

Surrounding Tissues

A benign enchondroma should not usually produce significant periosteal reaction or extensive surrounding edema.

Such findings warrant closer assessment for fracture or an aggressive lesion.

Bone Scintigraphy

Enchondromas may demonstrate increased radionuclide uptake and therefore appear “hot” on a bone scan.

This does not by itself imply malignant transformation.

Interpretation of Increased Uptake

Although enchondromas generally do not enlarge, they undergo ongoing remodeling.

Increased tracer uptake can therefore be present in a benign lesion.

A change in uptake compared with previous studies may be more significant than a single positive scan.

Pathological Findings

Microscopic Appearance

Typical enchondromas contain small nests or lobules of cartilage separated by normal marrow.

The chondrocytes are generally bland, without significant atypia.

Calcification

Foci of calcification and enchondral ossification are commonly present.

A thin rim or layer of lamellar bone may also be seen.

Cellular Features

At low magnification, the lesions are usually hypocellular with a blue-gray chondroid matrix and inconspicuous nuclei.

At higher magnification, nuclei are small, uniform, and darkly staining.

Binucleated cells are uncommon in typical long-bone lesions.

Bone Permeation

True permeation of pre-existing trabecular bone is not characteristic of enchondroma.

Infiltrative permeation of marrow and trabeculae raises concern for chondrosarcoma.

Ki-67

Enchondromas generally demonstrate very low proliferative activity, and Ki-67 staining is typically negative or minimal.

Hand Lesions

Enchondromas of the hand may look somewhat more cellular and atypical microscopically than comparable lesions in long bones while still behaving benignly.

They may demonstrate mild myxoid change, increased cellularity, and occasional binucleated cells.

These findings should therefore be interpreted in the context of the lesion’s location and imaging appearance.

Differential Diagnosis

Bone Infarct

A heavily mineralized enchondroma may resemble a bone infarct.

The distribution and pattern of mineralization can help differentiate the two.

Chondrosarcoma

The most important differential diagnosis is low-grade chondrosarcoma, particularly in an adult with a painful or enlarging long-bone lesion.

Enchondroma Versus Low-Grade Chondrosarcoma

Distinguishing a benign enchondroma from an active cartilaginous lesion or low-grade chondrosarcoma can be difficult.

Histologic overlap is substantial, so biopsy alone may not provide a definitive answer.

Diagnosis requires careful correlation of clinical symptoms, serial imaging, lesion location, cortical behavior, and pathology.

Features Favoring Enchondroma

Features supporting enchondroma include absence of pain attributable to the lesion, radiographic stability, relatively uniform matrix mineralization, minimal endosteal erosion, low cellularity, and bland uniform chondrocytes.

Features Suggesting Chondrosarcoma

Concerning findings include persistent lesion-related pain, progressive enlargement, lucent nonmineralized regions, marked endosteal scalloping, cortical thickening or destruction, loss of previously present mineralization, periosteal reaction, increased cellularity, atypia, and permeation of trabecular bone.

Endosteal Scalloping

Deep endosteal erosion involving more than approximately 50% of cortical thickness is more concerning for an aggressive cartilaginous lesion than for a latent enchondroma.

Treatment

General Principles

Most asymptomatic enchondromas do not require surgery.

The principal goals are to confirm radiographic stability and ensure that pain, if present, is not being incorrectly attributed to the lesion.

Evaluation of Pain

Because a typical enchondroma should not cause pain in a long bone, common regional causes should be considered.

For example, pain around a proximal humeral enchondroma may actually arise from rotator cuff disease or glenohumeral arthritis.

Pain near a proximal femoral lesion may result from trochanteric bursitis, hip arthritis, or abductor pathology, while pain near a distal femoral lesion may arise from patellofemoral disease, knee arthritis, or iliotibial-band symptoms.

Activity

Routine activity restriction is generally unnecessary for an uncomplicated enchondroma of a long bone.

Management should instead be based on fracture risk and symptoms.

Hand and Foot Enchondromas

Lesions in the small bones of the hands and feet may weaken the cortex and predispose to fracture.

For this reason, symptomatic or structurally significant lesions are more often treated surgically.

Pathologic Fracture

When a pathologic fracture occurs through a hand enchondroma, the fracture is often allowed to heal first.

Curettage and grafting can then be performed after union if the lesion remains clinically significant.

Surgery

Long-Bone Lesions

Surgery is usually unnecessary for a stable, asymptomatic enchondroma of a long bone.

Observation with serial imaging is generally sufficient.

Curettage

Symptomatic hand lesions are commonly treated by intralesional curettage.

The cartilaginous tissue is removed through a cortical window.

Bone Grafting

Following curettage, the defect may be filled with bone graft or another suitable bone substitute, particularly when substantial structural weakness remains.

Surgical Approach in the Phalanx

A small cortical window can be created along the lateral aspect of the involved phalanx.

The lesion is then thoroughly curetted, and the residual cavity may be grafted.

Enchondromatosis Treatment

Angular Deformity

Surgery may be required when multiple enchondromas cause significant angular deformity.

Corrective osteotomy can be performed, including through involved bone when appropriate.

Limb-Length Discrepancy

Clinically significant limb-length inequality may be managed with epiphysiodesis or limb-lengthening procedures, depending on patient age and the magnitude of discrepancy.

Hand Disease

Large hand lesions that interfere with function or substantially weaken the bone may require curettage and grafting.

Follow-Up

Patients with solitary long-bone enchondromas are commonly followed with serial radiographs at approximately 3–6-month intervals initially, often for 1–2 years.

If the lesion remains stable, surveillance can usually become less frequent.

Return Precautions

Patients should return for reassessment if the involved extremity develops new persistent pain, swelling, or other changes, because these may indicate fracture or more aggressive biological behavior.

Referral

Patients with a cartilage lesion and unexplained musculoskeletal pain should be considered for referral to an orthopaedic oncologist, particularly when radiographic findings are atypical or there is concern for chondrosarcoma.

Complications

Malignant Transformation

The principal oncologic complication is transformation to chondrosarcoma, although this is uncommon in solitary enchondromas.

New pain and documented lesion growth are particularly concerning.

Ollier Disease

Patients with enchondromatosis have a substantially greater risk of malignant transformation than patients with solitary enchondroma.

Historical series have reported development of chondrosarcoma in approximately 30% of patients with Ollier disease, commonly during the third or fourth decades of life.

Maffucci Syndrome

The risk of malignancy is particularly high in Maffucci syndrome.

Affected patients are predisposed not only to chondrosarcoma but also to other malignancies involving organs such as the brain and pancreas.

Patient Monitoring

Monitoring should focus on clinical symptoms and serial radiographic behavior.

Important warning features include new lesion-related pain, enlargement, increasing cortical erosion, cortical destruction, new periosteal reaction, loss of mineralization, or development of a soft-tissue mass.

Patients with Ollier disease or Maffucci syndrome require more prolonged surveillance because of their substantially higher risk of malignant transformation.

Orthopaedic Surgery - Elbow Dislocation

Basics

Elbow dislocation is usually the result of acute trauma, most often involving disruption of the ulnohumeral articulation.

Posterior dislocation is by far the most common pattern.

The injury occurs most frequently in younger patients, particularly those under 20 years of age, although it may also occur in older adults after a fall.

Approximately 26% of elbow dislocations are associated with a fracture.

Classification

Elbow dislocations are generally named according to the position of the ulna relative to the humerus after injury.

They may be classified as posterior, anterior, medial, lateral, or divergent.

Posterior and posterolateral patterns are the most frequently encountered.

Fracture-Dislocation

An elbow dislocation associated with fractures of the radial head and coronoid process is referred to as the terrible triad of the elbow.

This is a complex unstable injury with a substantially worse prognosis than an uncomplicated simple dislocation.

Coronoid Fracture Classification

Coronoid fractures have traditionally been divided into three types.

Type I is an avulsion fracture involving the tip of the coronoid.

Type II involves up to approximately 50% of the coronoid.

Type III involves more than 50% of the coronoid.

Larger coronoid fractures are more often associated with major anterior or posterior fracture-dislocations, while smaller transverse fragments are frequently seen in terrible-triad injuries.

Epidemiology

The highest incidence of elbow dislocation occurs in patients younger than 20 years of age.

Among children, elbow fractures and dislocations together account for approximately 3–6% of pediatric skeletal injuries.

Risk Factors

Participation in sports increases the risk of elbow dislocation.

Snowboarding has been associated with a greater risk of elbow dislocation than skiing, largely because falls onto an outstretched upper extremity are common.

Pathophysiology

Posterior elbow dislocation most often results from a fall onto an outstretched hand.

Axial loading and valgus or rotational forces transmitted through the forearm disrupt the stabilizing structures of the elbow.

Soft-Tissue Injury

The collateral ligaments are usually injured during a posterior dislocation.

The brachialis muscle and coronoid region may also be damaged.

The severity of ligament disruption determines post-reduction stability.

Associated Injuries

Elbow dislocation may occur with fractures of the radius, ulna, or distal humerus.

Neurologic and vascular injuries can also occur.

Nerve Injury

The ulnar and median nerves are particularly vulnerable.

The median nerve can become entrapped within the joint, including during reduction, so its function must be documented carefully before and after the procedure.

Brachial Artery Injury

The brachial artery may be stretched, compressed, disrupted, or trapped within the dislocated joint.

Vascular compromise is a limb-threatening problem and requires urgent surgical assessment.

Diagnosis

Signs and Symptoms

The typical patient presents after trauma with severe elbow pain, swelling, obvious deformity, and inability or unwillingness to move the elbow.

The normal contour of the elbow may be markedly distorted.

Physical Examination

Neurovascular Examination

A complete neurovascular assessment is essential before any attempt at reduction.

Motor and sensory function of the radial, median, and ulnar nerves should be documented.

Median Nerve

Median nerve function deserves particular attention because the nerve may become entrapped during the injury or during reduction.

A clearly documented pre-reduction examination is important for distinguishing traumatic injury from an iatrogenic change.

Ulnar and Radial Nerves

Ulnar and radial nerve motor and sensory function should also be evaluated carefully.

Any abnormality should be documented and reassessed after reduction.

Vascular Examination

The brachial artery and distal perfusion should be assessed before reduction.

The examination should include radial and ulnar pulses, capillary refill, skin temperature, and overall hand perfusion.

Vascular Injury

Loss of perfusion or evidence of arterial entrapment requires immediate orthopaedic and vascular surgical evaluation.

Examination for Associated Injury

The entire upper extremity should be inspected because associated injuries are common.

The clinician should specifically evaluate the shoulder, forearm, wrist, and distal radioulnar joint.

Monteggia Injury

A Monteggia fracture-dislocation should be excluded when forearm pain or deformity accompanies an apparent elbow injury.

Compartment Syndrome

The forearm should be palpated for increasing firmness, swelling, or pain suggestive of compartment syndrome.

Serial examination is particularly important in high-energy injuries.

Imaging

Plain Radiographs

AP and lateral radiographs of the elbow are generally sufficient to confirm the direction of the dislocation.

Whenever practical, imaging should be obtained without an obscuring splint so that associated fractures and subtle joint incongruity are not missed.

Post-Reduction Radiographs

Radiographs should also be obtained after reduction to confirm concentric joint alignment and identify associated fractures that may have been difficult to appreciate initially.

CT

CT is especially useful in fracture-dislocations.

It defines the size, location, and displacement of coronoid, radial head, and other articular fragments and assists with surgical planning.

MRI

MRI can demonstrate collateral ligament and other soft-tissue injuries.

It is not routinely required for uncomplicated acute dislocations but may be useful when persistent instability or associated soft-tissue pathology is suspected.

Differential Diagnosis

The main diagnostic concern is an associated fracture or fracture-dislocation rather than a separate condition.

Careful imaging is therefore required to identify coronoid, radial head, olecranon, distal humeral, or forearm fractures.

Initial Treatment

Emergency Measures

The injured arm should be immobilized, elevated, and treated with ice while urgent evaluation is arranged.

An acute elbow dislocation requires prompt emergency assessment.

Neurovascular Documentation

Neurovascular status must be recorded before and after reduction.

Any deterioration following reduction requires urgent reassessment.

Radiographic Evaluation

Radiographs are obtained to define the dislocation and identify associated fractures whenever the clinical condition permits.

Closed Reduction

Most simple elbow dislocations can be treated with closed reduction under appropriate analgesia, sedation, or anesthesia.

Posterior Dislocation Reduction

Posterior or posterolateral dislocations are commonly reduced using gentle longitudinal traction combined with gradual elbow flexion and directed pressure on the forearm or olecranon.

Forceful manipulation should be avoided.

Confirmation of Reduction

Successful reduction is suggested by restoration of elbow contour and improved motion.

Radiographic confirmation is required.

Post-Reduction Examination

Range of Motion

Following reduction, the elbow should be taken gently through flexion and extension to assess stability and determine the safe arc of motion.

Ligamentous Stability

Gentle valgus and varus stress testing may be performed to assess collateral ligament competence.

Gross instability after reduction raises concern for major ligament disruption or associated fracture.

Repeat Neurovascular Examination

Radial, median, and ulnar nerve function and distal vascular status must be rechecked immediately after reduction.

Immobilization

A posterior splint with the elbow at approximately 90° of flexion is commonly used initially.

The exact position may be modified according to stability and associated injury.

Duration

Immobilization is generally brief, often approximately 1 week in a stable simple dislocation.

Prolonged immobilization should be avoided because the elbow is highly prone to stiffness.

Immobilization beyond about 3 weeks substantially increases the risk of persistent motion loss.

Activity

After immobilization is discontinued, gradual active and passive motion should begin.

Heavy lifting should initially be avoided, with progression determined by pain, stability, and recovery.

Physical Therapy

Rehabilitation emphasizes restoration of range of motion followed by progressive strengthening.

Early controlled motion is one of the most important measures for minimizing post-dislocation elbow stiffness.

Surgery

Indications

Surgical treatment is indicated for irreducible dislocation, open dislocation, neurovascular entrapment, selected associated fractures, and unstable complex fracture-dislocations.

Irreducible Dislocation

Failure of closed reduction may result from soft-tissue interposition, an entrapped nerve, or an intra-articular fracture fragment.

Open reduction is then required.

Open Dislocation

Open elbow dislocations require urgent operative irrigation, debridement, reduction, and stabilization as appropriate.

Neurovascular Entrapment

Entrapment of the brachial artery, median nerve, or other critical structures is an indication for operative exploration.

Fracture Fixation

Open reduction and internal fixation may be required for associated displaced radial head fractures, olecranon fractures, distal humeral fractures, or other unstable osseous injuries.

Complex Fracture-Dislocations

The central objective in treating a complex fracture-dislocation is to restore the articular surface and recreate stable elbow mechanics.

Coronoid Repair

The coronoid should be repaired when necessary because it is an important anterior stabilizer of the elbow.

Radial Head Reconstruction

The radial head should be preserved and reconstructed when possible.

When the fracture is not reconstructable, radial head replacement may be required to restore stability.

Collateral Ligament Repair

Repair of the lateral and, when necessary, medial collateral ligament complexes may be needed to obtain a stable joint.

Terrible Triad Reconstruction

Management of the terrible triad commonly involves coronoid fixation, restoration or replacement of the radial head, and repair of the lateral collateral ligament complex, with additional procedures based on residual instability.

Total Elbow Arthroplasty

Total elbow arthroplasty may occasionally be considered for selected elderly patients with severe unreconstructable fracture-dislocations or neglected injuries.

It is generally reserved for low-demand patients because of postoperative lifting restrictions and implant-related complications.

Follow-Up

Prognosis

Most patients with a simple elbow dislocation treated with prompt closed reduction and early motion achieve a good functional outcome.

Residual Loss of Motion

The most frequent residual problem is loss of terminal extension.

A persistent deficit of approximately 10–15° of extension is common and often causes little functional impairment.

Instability

Persistent medial or valgus instability can predispose to chronic pain and secondary degenerative arthritis.

Role of Surgery in Simple Dislocation

Routine surgical repair has not generally been shown to improve outcomes in uncomplicated elbow dislocations without associated fracture or persistent instability.

Most such injuries are therefore managed nonoperatively.

Complex Injuries

Complex fracture-dislocations have a less favorable prognosis.

Aggressive reconstruction aimed at restoring stable anatomy and permitting early motion generally provides the best chance of functional recovery.

Complications

Loss of Motion

Elbow stiffness is the most common complication.

Loss of extension is more common than severe flexion loss.

Neurovascular Injury

Persistent nerve dysfunction or vascular injury may occur from the initial trauma, entrapment, swelling, or less commonly as a complication of reduction.

Chronic Pain

Some patients develop persistent pain because of residual instability, cartilage injury, heterotopic ossification, or post-traumatic arthritis.

Post-Traumatic Arthritis

Articular injury and chronic instability can lead to degenerative changes over time.

Recurrent or Persistent Instability

Failure of the collateral ligaments or inadequate healing may result in chronic valgus, varus, or posterolateral rotatory instability.

Heterotopic Ossification

Heterotopic bone formation can develop in the periarticular soft tissues after severe trauma.

It may contribute to pain and restriction of elbow motion.

Patient Monitoring

Follow-up frequency depends on injury severity and stability.

In a stable simple dislocation, immobilization is usually maintained for approximately 1 week, followed by early motion.

Immobilization should generally remain shorter than 3 weeks whenever stability permits.

During the first 12–24 hours, close monitoring should include neurovascular function, forearm compartment status, pain, swelling, and hand perfusion.

Subsequent follow-up should assess range of motion, stability, neurologic recovery, associated fracture healing, and development of heterotopic ossification or post-traumatic arthritis.

Orthopaedic Surgery - Elbow Anatomy and Examination

Basics

The elbow is a complex trochoginglymoid joint, meaning that it functions primarily as a hinge while also permitting rotational motion of the forearm.

Functionally, the elbow consists of three articulations: the humeroulnar joint, radiocapitellar joint, and proximal radioulnar joint.

Together, these joints permit flexion and extension of the elbow as well as pronation and supination of the forearm.

Osseous Anatomy

Humeroulnar Joint

The humeroulnar joint is formed by articulation of the trochlea of the distal humerus with the greater sigmoid, or trochlear, notch of the proximal ulna.

This articulation is the major contributor to elbow flexion and extension.

Coronoid and Radial Fossae

Anteriorly, the distal humerus contains the coronoid fossa and radial fossa.

During elbow flexion, these depressions accommodate the coronoid process of the ulna and radial head, respectively.

Olecranon Fossa

Posteriorly, the olecranon fossa receives the olecranon process of the ulna during elbow extension.

This relationship permits near-complete extension while maintaining joint congruity.

Ulnar Nerve Groove

A groove lies posterior to the medial epicondyle through which the ulnar nerve passes.

Because the nerve is superficial in this region, it is vulnerable to compression, irritation, trauma, and subluxation.

Radiocapitellar Joint

The radiocapitellar articulation is formed between the radial head and capitellum of the distal humerus.

The superior surface of the radial head is concave and articulates with the convex capitellum.

Radial Head

The radial head is covered with articular cartilage over most of its circumference, approximately 280°.

This allows it to articulate smoothly not only with the capitellum but also with the lesser sigmoid notch of the ulna.

Function of the Radiocapitellar Joint

The radiocapitellar joint contributes to elbow stability and allows rotation of the radius during forearm pronation and supination.

Proximal Radioulnar Joint

The proximal radioulnar joint is formed by the articulation of the radial head with the lesser sigmoid, or radial, notch of the ulna.

The radial head rotates within this articulation, producing a pivot mechanism essential for pronation and supination.

Ligaments

Ulnar Collateral Ligament

The ulnar collateral ligament (UCL) is the major medial stabilizer of the elbow.

It resists valgus stress and is especially important during overhead throwing.

The anterior bundle is the primary restraint to valgus loading through much of the functional arc.

Lateral Collateral Ligament Complex

The radial or lateral collateral ligament complex stabilizes the lateral elbow.

Its components resist varus stress and posterolateral rotatory instability.

Muscles

Biceps Brachii

The biceps brachii functions as an elbow flexor and powerful forearm supinator.

Its contribution to supination is particularly important when the elbow is flexed.

Brachialis

The brachialis is a strong elbow flexor.

Because it inserts on the ulna, its flexion function is relatively independent of forearm position.

Triceps Brachii

The triceps brachii is the primary extensor of the elbow.

Its tendon inserts on the olecranon.

Pronator Teres

The pronator teres contributes to forearm pronation and also assists with elbow flexion.

Nerves

Median Nerve

The median nerve crosses the elbow anteriorly.

It lies superficial to the brachialis muscle and generally medial to the brachial artery.

Distally, it supplies most of the flexor muscles of the forearm as well as important motor and sensory structures in the hand.

Ulnar Nerve

The ulnar nerve passes superficially behind the medial epicondyle through the cubital tunnel.

This location is a common site for ulnar nerve compression and subluxation.

The nerve ultimately supplies most of the intrinsic muscles of the hand.

Radial Nerve

The radial nerve crosses the elbow anterior to the lateral epicondylar region.

Near the elbow, it divides into the superficial radial sensory nerve and the posterior interosseous nerve.

Its motor branches supply the elbow, wrist, and finger extensor musculature.

History

A complete history should be obtained before examination.

Important information includes the patient’s activities, occupation, sport participation, hand dominance, comorbidities, previous injuries, and prior elbow surgery.

Symptoms should be characterized according to location, duration, aggravating activities, instability, neurologic symptoms, and mechanical complaints such as locking or catching.

Physical Examination

Inspection

Both upper extremities should be exposed from the shoulder girdle to the hand.

The examiner should compare the two sides from both the anterior and posterior perspectives.

The neck, shoulder, wrist, and hand should also be evaluated because pathology in these regions may refer symptoms to the elbow.

Carrying Angle

The physiologic carrying angle is a mild valgus alignment of the forearm relative to the humerus.

Typical values are approximately 11–14° of valgus in males and 13–16° in females.

Marked asymmetry may suggest previous trauma, growth disturbance, or deformity.

Visual Assessment

The examiner should look for muscular hypertrophy or atrophy, swelling, cutaneous lesions, ecchymosis, deformity, signs of acute trauma, and scars from previous surgery.

Palpation

Digital palpation should be systematic and directed toward identifying the specific anatomic structure responsible for pain.

Important areas include the medial and lateral epicondyles, radial head, olecranon, distal biceps tendon, UCL, lateral ligament complex, cubital tunnel, and joint lines.

Range of Motion

Active and passive elbow motion should be compared bilaterally.

Normal motion is approximately 0–140° of flexion, with some individuals demonstrating up to about 10° of hyperextension.

Forearm rotation is approximately 80° of supination and 80° of pronation.

Functional Range of Motion

Most activities of daily living can be performed with approximately 30–130° of elbow flexion, together with about 50° of pronation and 50° of supination.

Loss of motion outside this functional arc may therefore be tolerated better than loss within it.

Strength Testing

Isometric strength should be assessed and compared with the contralateral side.

Elbow flexion, extension, pronation, and supination should be tested individually.

Pain during resisted testing may help localize tendon pathology.

Elbow Effusion

An elbow effusion can be palpated most readily over the lateral joint in the center of the triangle formed by the lateral epicondyle, radial head, and olecranon tip.

An effusion suggests intra-articular pathology and may be accompanied by loss of terminal extension.

Lateral Epicondylitis

Lateral epicondylitis, commonly called tennis elbow, usually results from repetitive overuse of the wrist and finger extensor mechanism.

The extensor carpi radialis brevis is particularly commonly involved.

Tenderness

Maximal tenderness is typically located just anterior and distal to the lateral epicondyle, near the origin of the extensor carpi radialis brevis.

Resisted Wrist Extension Test

With the forearm pronated, the patient attempts to extend the wrist against resistance.

Reproduction of pain over the lateral epicondyle constitutes a positive test.

Chair Test

The chair test may also provoke symptoms.

The patient attempts to lift a chair with the forearm pronated and elbow extended, reproducing pain at the lateral epicondyle.

Medial Epicondylitis

Medial epicondylitis, or golfer’s elbow, affects the common flexor-pronator origin.

Pain is localized over the medial epicondyle and may be exacerbated by resisted wrist flexion or forearm pronation.

Resisted Flexion and Pronation Test

The elbow is placed in slight flexion with the forearm initially supinated.

The patient performs resisted wrist flexion and/or pronation.

Reproduction of pain at the medial epicondyle supports the diagnosis.

Olecranon Bursitis

The olecranon bursa lies subcutaneously over the posterior olecranon.

Inflammation may result from repetitive trauma, direct injury, hemorrhage, infection, or rheumatologic disease.

Examination Findings

The patient may have localized swelling over the olecranon, with or without erythema.

Tenderness varies according to the cause.

Septic bursitis is more likely to be painful, erythematous, and warm.

Elbow Instability

Ulnar Collateral Ligament Insufficiency

The UCL is the major restraint to valgus instability.

Injury is particularly common in throwing athletes because of repetitive valgus loading.

Valgus Stress Test

The elbow is flexed to approximately 30° to reduce bony stability, and a valgus force is applied.

The examiner palpates the UCL from the medial epicondyle to its insertion on the sublime tubercle of the proximal ulna.

Increased medial joint opening or absence of a firm endpoint suggests UCL insufficiency.

Additional UCL Tests

Other useful provocative maneuvers include the milking maneuver and moving valgus stress test.

These tests may reproduce medial elbow pain or demonstrate valgus instability.

Lateral Collateral Ligament Insufficiency

Lateral ligament failure may produce posterolateral rotatory instability of the elbow.

Posterolateral Rotatory Instability Test

The patient is positioned supine with the shoulder elevated overhead.

The humerus is stabilized, and the forearm is placed in full supination.

Starting with the elbow near extension, the examiner slowly flexes the elbow while applying axial loading and a slight valgus and supination force.

Positive Test

A positive test may produce a palpable clunk, posterior prominence of the radial head, and skin dimpling proximal to the radial head as the radiocapitellar and ulnohumeral articulations transiently subluxate.

Additional Instability Tests

Other maneuvers include the chair push-up test, stand-up test, and tabletop relocation test.

These reproduce symptoms by loading the elbow in positions that provoke posterolateral instability.

Valgus Extension Overload

Valgus extension overload is most commonly seen in overhead throwing athletes.

Patients may describe a painful pop or posteromedial discomfort during throwing.

Associated Abnormalities

The condition is frequently associated with UCL insufficiency, intra-articular loose bodies, and radiocapitellar cartilage injury.

Pathomechanics

Repeated throwing produces valgus stress medially, compression of the radiocapitellar joint laterally, and posteromedial impingement of the olecranon against the medial trochlea during terminal extension.

Examination

Passive forced hyperextension may reproduce posteromedial elbow pain.

Elbow Arthritis

Elbow arthritis commonly presents with loss of extension and pain at terminal extension.

Some patients also lose flexion as disease advances.

An effusion may or may not be present.

Flexion Contracture

Both active and passive extension may be restricted, resulting in a flexion contracture.

Mechanical impingement from osteophytes may contribute to terminal-motion pain.

Cubital Tunnel Syndrome

Cubital tunnel syndrome results from compression or traction of the ulnar nerve around the elbow.

Patients commonly report medial elbow discomfort together with numbness or paresthesias involving the ring and small fingers.

Symptoms are often aggravated by prolonged elbow flexion.

Tinel Sign

Percussion over the ulnar nerve posterior to the medial epicondyle may reproduce radiating paresthesias into the ulnar forearm and hand.

This represents a positive Tinel sign.

Additional Cubital Tunnel Tests

Other provocative maneuvers include the elbow flexion test, scratch collapse test, and shoulder internal rotation test.

The ulnar nerve should also be assessed dynamically for subluxation over the medial epicondyle during flexion.

Distal Biceps Tendon Rupture

A distal biceps rupture may present with acute antecubital pain, bruising, weakness, and loss of normal tendon palpability.

Supination weakness is often particularly pronounced.

Palpation

The distal biceps tendon may be absent or difficult to palpate within the antecubital fossa.

Tenderness is common in the acute setting.

Popeye Deformity

Retraction of the biceps muscle may produce a characteristic Popeye appearance.

A similar deformity can also occur with proximal biceps tendon rupture, so the location and mechanism must be considered.

Hook Test

The hook test is a useful examination for distal biceps integrity.

With the shoulder abducted and the elbow flexed approximately 90°, the patient actively supinates the forearm.

The examiner attempts to hook a finger beneath the distal biceps tendon from the lateral side.

Interpretation

In an intact tendon, the examiner can hook beneath the taut distal biceps.

Failure to palpate or hook the tendon strongly suggests a complete distal biceps rupture.

Biceps Squeeze Test

The patient’s elbow is flexed while the forearm is relaxed.

The examiner compresses the biceps muscle belly.

With an intact tendon, squeezing the muscle produces passive forearm supination.

Failure of the forearm to supinate suggests distal tendon rupture.

Passive Pronation-Supination Test

With the elbow supported at approximately 90° of flexion, the examiner palpates the biceps while passively pronating and supinating the forearm.

An intact tendon produces visible or palpable movement of the biceps muscle belly as the radius rotates.

Loss of this normal excursion may indicate tendon disruption.

General Examination Principles

Elbow pathology frequently overlaps with disorders involving the shoulder, cervical spine, forearm, wrist, and peripheral nerves.

A complete examination should therefore integrate inspection, palpation, range of motion, strength, neurologic assessment, stability testing, and condition-specific provocative maneuvers.

Comparison with the opposite elbow is particularly useful when assessing motion, carrying angle, strength, and ligamentous laxity.

Orthopaedic Surgery - Ehlers–Danlos Syndrome

Basics

Ehlers–Danlos syndrome (EDS) refers to a heterogeneous group of inherited connective-tissue disorders caused by abnormalities affecting collagen or collagen-related proteins.

These abnormalities produce varying degrees of joint hypermobility, skin hyperextensibility and fragility, abnormal wound healing, easy bruising, and involvement of the cardiovascular, ocular, skeletal, and other organ systems.

At least 13 recognized subtypes have been described, each with a characteristic combination of clinical manifestations, inheritance patterns, and molecular abnormalities.

The age at diagnosis ranges from infancy to adulthood, depending on the severity and phenotype.

Classification

EDS encompasses several clinically and genetically distinct disorders.

Important phenotypes include classical, classical-like, cardiac-valvular, vascular, hypermobile, arthrochalasia, dermatosparaxis, kyphoscoliotic, brittle cornea, spondylodysplastic, musculocontractural, myopathic, and periodontal EDS.

Classical EDS

Classical EDS is characterized primarily by skin hyperextensibility, generalized joint hypermobility, easy bruising, and abnormal scar formation.

Subcutaneous spheroids and hernias may also occur.

Classical-Like EDS

Classical-like EDS resembles the classical form, with prominent skin and joint manifestations, but differs in its underlying genetic abnormality and certain clinical features.

Cardiac-Valvular EDS

Cardiac-valvular EDS is characterized by progressive valvular heart disease, together with connective-tissue manifestations such as skin hyperextensibility and joint abnormalities.

Chest-wall deformities such as pectus excavatum may also occur.

Vascular EDS

Vascular EDS is one of the most serious forms.

Patients are predisposed to arterial aneurysm, dissection, and rupture, sometimes at a young age.

Spontaneous rupture of hollow organs, particularly the bowel or uterus, may also occur.

Unlike some other EDS variants, generalized joint hypermobility may be less prominent.

Hypermobile EDS

Hypermobile EDS is characterized predominantly by generalized joint hypermobility, recurrent instability or dislocation, and chronic musculoskeletal pain.

Skin manifestations are usually less severe than in classical EDS.

Arthrochalasia EDS

Arthrochalasia EDS is associated with severe generalized joint hypermobility, congenital bilateral hip dislocation, muscle hypotonia, and recurrent joint instability.

Dermatosparaxis EDS

Dermatosparaxis EDS is characterized by extreme skin fragility and easy bruising.

Patients may also demonstrate short stature, redundant skin, and umbilical or other hernias.

Kyphoscoliotic EDS

Kyphoscoliotic EDS commonly presents with congenital muscular hypotonia, early-onset progressive kyphoscoliosis, generalized joint hypermobility, and recurrent subluxation or dislocation.

Reduced bone mass and osteoporosis may also be present.

Brittle Cornea Syndrome

Brittle cornea syndrome is distinguished by marked corneal thinning and fragility, which may predispose to serious ocular complications.

Musculoskeletal hypermobility may also occur.

Spondylodysplastic EDS

Spondylodysplastic EDS may present with short stature, muscle hypotonia, skeletal dysplasia, and bowing of the limbs.

Musculocontractural EDS

Musculocontractural EDS is characterized by multiple congenital contractures, distinctive craniofacial features, and characteristic abnormalities of the skin and connective tissues.

Myopathic EDS

Myopathic EDS often presents with congenital muscle hypotonia, proximal joint contractures, and hypermobility of more distal joints.

Periodontal EDS

Periodontal EDS is characterized particularly by severe early-onset periodontal disease, together with variable joint and skin manifestations.

General Prevention

EDS itself cannot be prevented, but many serious complications can be reduced through anticipatory surveillance and modification of risk.

Particular attention should be directed toward prevention of vascular rupture, excessive bleeding, recurrent joint dislocation, skin injury, and progressive spinal deformity.

Joint Protection

Patients should avoid activities that repeatedly force joints beyond their physiologic range.

Education regarding safe movement patterns, proprioception, and muscle conditioning can reduce the frequency of instability episodes.

Cardiovascular Protection

Individuals with vascular or cardiac involvement require appropriate cardiovascular surveillance.

Early recognition of aneurysm, arterial dissection, or progressive valvular disease is especially important.

Epidemiology

EDS affects both males and females.

Overall prevalence has historically been estimated at approximately 1 in 5,000 individuals, although prevalence varies considerably according to subtype and may be underestimated because milder cases are often unrecognized.

No consistent racial predilection has been established.

Risk Factors

The principal risk factor is a positive family history of EDS or characteristic manifestations, such as marked hypermobility, vascular rupture, unusual skin fragility, or recurrent joint dislocation.

However, some patients have a new pathogenic variant and therefore lack an affected relative.

Genetics

The inheritance pattern varies according to EDS subtype.

Some forms are inherited in an autosomal dominant pattern, while others are autosomal recessive.

De novo pathogenic variants can also occur, so the absence of a family history does not exclude EDS.

Molecular Abnormalities

Different subtypes result from abnormalities in various collagen molecules or proteins involved in collagen processing and extracellular matrix organization.

For example, classical EDS is commonly related to abnormalities of type V collagen, while vascular EDS results from pathogenic variants affecting type III collagen.

Other forms may involve type I collagen or other matrix-associated proteins.

Etiology

EDS results from inherited abnormalities that interfere with the normal structure, production, processing, or organization of collagen and related connective-tissue proteins.

Because collagen is present throughout the body, manifestations can involve the skin, joints, blood vessels, eyes, gastrointestinal tract, and other organs.

Diagnosis

General Principles

The diagnosis is based on the clinical phenotype, family history, and established diagnostic criteria, with molecular testing used to confirm many EDS subtypes.

Evaluation by a medical geneticist or clinician experienced in hereditary connective-tissue disorders is often appropriate.

Signs

Common findings include hyperextensible skin, easy bruising, generalized joint hypermobility, recurrent joint instability, and spinal deformity.

Some patients can place their joints into positions far beyond the normal physiologic range.

Symptoms

Patients frequently report multiple joint pains, recurrent sprains or dislocations, and diffuse or poorly localized musculoskeletal discomfort.

Chronic pain may arise from repetitive instability and soft-tissue injury.

Physical Examination

General Inspection

Height and body proportions should be documented.

The patient should be examined for skeletal disproportions, chest-wall abnormalities, limb deformity, and other features that may suggest a particular subtype.

Joint Range of Motion

Joint motion should be measured systematically.

Particular attention should be paid to hyperextension of the fingers, elbows, and knees, as well as excessive motion at other joints.

Joint Stability

The shoulders, elbows, knees, ankles, and other symptomatic joints should be assessed for instability, recurrent subluxation, or dislocation.

Skin Examination

The examiner should assess the texture, elasticity, fragility, and extensibility of the skin.

Bruising, abnormal scars, or areas of previous wound breakdown should be noted.

Ocular Examination

Visual symptoms should prompt formal ophthalmologic evaluation.

Certain EDS-related disorders may cause corneal abnormalities or other potentially serious ocular manifestations.

Spine Examination

The patient should be examined for kyphosis, scoliosis, or other spinal deformity.

A forward-bend test can help detect rotational prominence associated with scoliosis.

Diagnostic Testing

Molecular Testing

Genetic testing is available for many, although not all, EDS subtypes.

Testing should ideally be performed through an experienced genetics service capable of interpreting variants in the context of the patient’s phenotype.

Bone Quality

Patients with EDS may have impaired bone quality even when conventional bone mineral density is relatively preserved.

Measures of trabecular bone microarchitecture may therefore provide additional information about skeletal strength in selected patients.

Imaging

Cardiovascular Imaging

Patients with subtypes associated with cardiovascular abnormalities may require periodic assessment of the heart, valves, aorta, and arterial system according to their specific phenotype and genetic diagnosis.

Spine Radiographs

Plain radiographs should be obtained when examination suggests scoliosis, kyphosis, spondylolisthesis, or another structural spinal deformity.

Vertebral Fractures

Adults with EDS may demonstrate vertebral fractures even when bone mineral density is not markedly reduced.

This supports the concept that abnormalities of bone quality, rather than density alone, may influence skeletal fragility.

Pathological Findings

Microscopic examination of connective tissue may demonstrate irregular or abnormally organized collagen fibers.

Such findings reflect the underlying structural abnormality of the extracellular matrix.

Cardiovascular Pathology

In severe vascular forms, arterial tissue may be unusually fragile and susceptible to aneurysm, dissection, or rupture.

Cardiac-valvular involvement may include myxomatous degeneration and abnormalities of the supporting chordae.

Differential Diagnosis

Marfan Syndrome

Marfan syndrome may also cause joint laxity and skeletal abnormalities.

However, it has a characteristic pattern involving long-bone overgrowth, ocular abnormalities, and cardiovascular disease, whereas EDS generally demonstrates more pronounced skin fragility and joint hypermobility.

Larsen Syndrome

Larsen syndrome may present with multiple congenital joint dislocations.

Unlike typical EDS, fixed contractures and cervical kyphosis are more characteristic.

Cutis Laxa

Cutis laxa should be considered when loose, redundant skin is the predominant manifestation.

The nature of the skin laxity and associated systemic features differ from those of EDS.

Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum can also produce characteristic skin and vascular abnormalities.

Its pattern of elastic-tissue mineralization distinguishes it from EDS.

Treatment

General Principles

Management is primarily supportive and preventive because the underlying connective-tissue defect cannot currently be corrected.

Treatment should be individualized according to the patient’s EDS subtype and affected organ systems.

Specialist Care

Referral to appropriate specialists is required when cardiovascular, ophthalmic, neurologic, gastrointestinal, or other systemic complications are present.

A medical geneticist often coordinates overall care.

Joint Instability

Surgery for instability should be considered cautiously because connective-tissue laxity and impaired tissue quality can increase the likelihood of recurrent instability, fixation failure, poor wound healing, and other complications.

Operative treatment is generally reserved for severe, function-limiting instability that has failed appropriate nonoperative management.

Arthrodesis

In selected severely unstable joints, fusion may occasionally be necessary when reconstruction cannot provide reliable stability.

Activity Modification

High-impact and collision activities should generally be minimized in patients with significant instability or vascular fragility.

Exercise is still encouraged, but activities should emphasize controlled, low-impact conditioning rather than extreme stretching or high-force loading.

Protective Measures

Protective padding and bandages may reduce bruising and hematoma formation during routine activities.

Skin trauma should be minimized whenever possible.

Medications Affecting Bleeding

Medications that impair platelet function or increase bleeding risk should be used cautiously, particularly in patients with substantial bruising or vascular fragility.

The risks and benefits of NSAIDs, aspirin, or anticoagulants should be considered individually rather than used indiscriminately.

Physical Therapy

Muscle Conditioning

Strengthening the muscles surrounding unstable joints can improve dynamic stability and may reduce pain and recurrent subluxation.

Exercise programs should prioritize controlled strengthening, proprioception, balance, and joint protection.

Prevention of Dislocation

Therapists can teach patients how to avoid provocative joint positions and how to modify daily activities to reduce repetitive instability.

Flexibility

Aggressive stretching is usually unnecessary in a disorder characterized by excessive joint mobility.

Therapy should focus more on control and stability than on achieving additional range of motion.

Surgery

General Considerations

EDS can produce segmental instability, scoliosis, kyphosis, and other structural deformities that occasionally require operative management.

Surgery is technically challenging because tissues may be fragile and healing may be less predictable.

Scoliosis

Spinal fusion may be considered for severe, progressive scoliosis, historically around curves exceeding approximately 45°, particularly when progression is likely and the patient’s overall medical status permits surgery.

The precise indication depends on curve type, progression, skeletal maturity, symptoms, and EDS subtype.

Surgical Risks

Operative planning should account for increased risks of bleeding, vascular injury, wound complications, implant failure, and recurrent deformity, especially in vascular and kyphoscoliotic forms.

Activity

Regular physical activity is usually beneficial when adapted to the individual’s phenotype.

Low-impact activities, controlled strengthening, and aerobic conditioning are generally preferable to contact sports, high-impact exercise, or activities requiring extreme joint motion.

Follow-Up

Referral

A medical geneticist is often the most appropriate specialist to coordinate routine long-term care, particularly when the subtype has not yet been clearly established.

Other specialists should be involved according to the affected organ systems.

Prognosis

Prognosis varies greatly among EDS subtypes.

Many individuals have a near-normal lifespan but experience chronic musculoskeletal symptoms, while certain forms—particularly vascular EDS—carry substantial risk of life-threatening complications.

Complications

Cardiovascular Events

Arterial aneurysm, dissection, or rupture can result in sudden life-threatening hemorrhage in vascular forms of EDS.

Cardiac-valvular disease may also progress in selected subtypes.

Joint Degeneration

Repeated instability and abnormal joint loading can lead to premature osteoarthritis and chronic musculoskeletal pain.

Recurrent Dislocations

Joint hypermobility may cause recurrent subluxations or dislocations involving the shoulders, patellae, hips, fingers, and other joints.

Spinal Deformity

Progressive scoliosis or kyphosis can occur, particularly in kyphoscoliotic forms.

Severe deformity may interfere with sitting balance, pulmonary function, or mobility.

Visual Complications

Certain EDS-related disorders may cause significant ocular abnormalities, including corneal fragility and visual impairment.

Skin and Wound Problems

Patients may experience easy bruising, skin splitting, delayed wound healing, widened scars, and hematoma formation.

These problems are particularly relevant when surgical treatment is planned.

Patient Monitoring

Long-term follow-up should be individualized according to the EDS subtype.

Monitoring may include joint stability, chronic pain, spinal alignment, skin and wound problems, cardiovascular status, ocular symptoms, bone health, and functional limitations.

Patients with potentially vascular forms require especially careful surveillance and counseling regarding symptoms that may indicate an acute arterial or visceral emergency.

Orthopaedic Surgery - Dupuytren Contracture

Basics

Dupuytren contracture is a fibroproliferative disorder of the palmar fascia characterized by the development of nodules and longitudinal cords that progressively shorten and produce flexion contractures of the fingers.

The metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints are most commonly affected, particularly in the ring and small fingers.

The condition is also known as Dupuytren disease.

Typical Age and Sex

Dupuytren disease most commonly develops in men during the fifth through seventh decades of life.

Men are affected considerably more often than women, with reported male-to-female ratios ranging from approximately 2:1 to 10:1.

Women generally develop the disease later and tend to have less severe involvement.

Early-Onset Disease

Patients who develop Dupuytren disease at a younger age often experience a more aggressive clinical course, faster progression, and higher recurrence rates following treatment.

A particularly aggressive form occurring in younger patients is referred to as Dupuytren diathesis.

Epidemiology

The prevalence in the United States has historically been estimated at approximately 2–3% of the general population.

Hand dominance does not appear to influence which hand becomes affected.

Associated Medical Conditions

The disease is more frequent or severe in patients with diabetes mellitus.

Associations have also been reported with epilepsy, chronic obstructive pulmonary disease, HIV infection, and use of certain antiseizure medications.

Links with alcohol consumption and tobacco exposure have been reported, although the strength and causal significance of these associations have been debated.

Risk Factors

Important risk factors include increasing age, male sex, Caucasian ancestry, Northern European heritage, and a positive family history.

Genetics

Dupuytren disease has a strong hereditary component.

It has traditionally been described as having an autosomal dominant pattern with variable penetrance, although the genetic basis is complex and likely involves multiple susceptibility genes.

A documented family history is present in only a minority of affected patients.

Etiology

The exact cause remains incompletely understood.

Abnormal regulation of connective-tissue formation appears to produce proliferation of fibroblasts and myofibroblasts with excessive deposition and contraction of collagen within the palmar fascia.

Associated Conditions

Diabetes Mellitus

Patients with diabetes may develop Dupuytren disease more frequently and may have more extensive involvement.

Epilepsy

An association with epilepsy has historically been reported, particularly in patients receiving long-term anticonvulsant therapy.

Alcohol Use

Alcohol misuse has been associated with Dupuytren disease in some studies, although whether alcohol itself is directly causal remains uncertain.

Chronic Pulmonary Disease and HIV

Increased prevalence has also been described in patients with chronic obstructive pulmonary disease and HIV infection.

Diagnosis

Early Disease

The disease usually begins with one or more firm nodules within the palmar fascia.

These nodules may be painless or mildly tender.

Skin Changes

Skin dimpling, puckering, or adherence may develop over or around the palmar nodules as the underlying fascia contracts.

Bilateral Disease

Approximately 45% of patients may have involvement of both hands.

However, disease severity is often asymmetric.

Progression

As Dupuytren disease progresses, the abnormal fascia extends into the fingers and forms palpable cords.

Flexion contracture typically develops first at the MCP joint, followed by involvement of the PIP joint.

Web-Space Contracture

Contracture may also involve the web spaces, limiting finger abduction and interfering with hand opening.

Knuckle Pads

Approximately 20% of patients may develop firm fibrous nodules over the dorsal aspect of the PIP joints.

These are known as Garrod pads or Garrod disease.

They are often asymptomatic but may become painful when prominent or repeatedly traumatized.

Dupuytren Diathesis

Patients with a strong Dupuytren diathesis may have fibromatosis at other sites in addition to the hand.

These manifestations include plantar fibromatosis and penile fibromatosis.

Ledderhose Disease

Plantar fibromatosis involving the plantar fascia is known as Ledderhose disease.

Peyronie Disease

Fibromatosis involving the penis is known as Peyronie disease.

The coexistence of these disorders may indicate a more aggressive fibromatosis tendency.

Physical Examination

Palmar Nodules

The palm should be inspected and palpated for firm nodules.

They may be tender during the early proliferative phase but often become painless later.

Palmar Cords

Longitudinal cords may extend from the palm into one or more fingers.

These cords become increasingly prominent as the disease progresses and are responsible for the development of joint contractures.

MCP Contracture

The MCP joint is the most commonly affected joint.

Progressive shortening of the palmar fascia prevents full finger extension.

PIP Contracture

PIP involvement is particularly important because established PIP contractures are generally more difficult to correct and more likely to recur.

Hueston Table-Top Test

The Hueston table-top test is used to assess functional contracture.

The patient attempts to place the palm and all fingers flat against a table.

The test is positive when the hand cannot be placed completely flat because one or more contracted fingers remain elevated.

Pathological Findings

Myofibroblasts

The characteristic proliferating cell is the myofibroblast.

These cells have contractile properties and are believed to play a major role in progressive shortening of the diseased fascia.

Collagen Abnormality

Dupuytren tissue demonstrates an increased proportion of type III collagen relative to type I collagen compared with normal palmar fascia.

The altered collagen organization contributes to formation of thickened cords.

Differential Diagnosis

Arthritis

Degenerative or inflammatory arthritis can produce finger stiffness and contracture but does not typically create characteristic palmar nodules and fascial cords.

Post-Traumatic Contracture

Previous fractures, tendon injuries, or prolonged immobilization may produce fixed finger contractures.

A history of trauma and absence of Dupuytren cords help distinguish these conditions.

Burn Contracture

Deep burns involving the palm may lead to scar contracture and limited extension.

The scar pattern and history generally establish the diagnosis.

Ulnar Nerve Palsy

Ulnar neuropathy can cause clawing of the ring and small fingers.

Unlike Dupuytren disease, clawing results from intrinsic muscle weakness rather than fascial shortening and is accompanied by neurologic findings.

Treatment

General Principles

Treatment depends primarily on the degree of contracture, rate of progression, symptoms, and functional impairment.

The presence of nodules alone does not necessarily require intervention.

Observation

Patients with painless nodules and no significant contracture may be observed.

Slowly progressive disease that does not interfere with function can also be followed with serial examinations.

Monitoring Progression

The degree of MCP and PIP contracture should be documented over time.

Changes in the table-top test, finger extension, and functional use of the hand help determine whether treatment is becoming necessary.

Hand Therapy

Role of Therapy

Hand therapy is used primarily as an adjunct after procedural or surgical treatment rather than as a means of reversing established fascial disease.

Goals

Therapy aims to maintain the extension obtained during treatment, restore flexion, minimize edema and scar formation, and recover functional hand use.

Splinting

A comfortable and appropriately fitted extension splint may be used after intervention.

The duration of splinting varies depending on disease severity, procedure, and postoperative motion.

Independent Exercises

Patients should be instructed in regular active and passive range-of-motion exercises.

Independent home exercises are an important part of recovery.

Medication and Nonoperative Procedures

Vitamin E and Splinting Alone

Vitamin E and long-term splinting alone have not been shown to reverse established Dupuytren contracture.

Corticosteroid Injection

Corticosteroid injection into painful early nodules has been used to reduce tenderness and possibly soften or temporarily suppress nodule progression.

It may also be used selectively for symptomatic knuckle pads.

Collagenase Injection

Collagenase clostridium histolyticum has been used as a minimally invasive treatment for palpable Dupuytren cords.

The enzyme is injected directly into the abnormal cord to weaken its collagen structure.

Manipulation After Collagenase

Approximately 24–48 hours after injection, the finger is manipulated under local anesthesia to rupture the weakened cord and improve extension.

Response by Joint

Collagenase treatment has generally been more predictable for MCP contractures than for PIP contractures.

PIP disease is more difficult to correct because of secondary joint and soft-tissue changes.

Surgery

Indications

Surgery is not indicated for stable, painless palmar nodules without meaningful contracture.

Knuckle pads rarely require operative treatment.

PIP Involvement

PIP contracture deserves particular attention because it can become increasingly resistant to correction.

Progressive contracture, functional loss, or clinically important inability to extend the finger may justify procedural or surgical intervention.

Operative Options

Procedures used to treat Dupuytren contracture include percutaneous needle aponeurotomy, open fasciotomy, limited or selective fasciectomy, more extensive fasciectomy, dermofasciectomy with skin grafting, and, rarely, amputation.

The choice depends on disease severity, recurrence, anatomy, and patient factors.

Percutaneous Needle Aponeurotomy

Needle aponeurotomy divides the pathological cord percutaneously.

It offers rapid recovery and minimal surgical trauma but generally has a higher recurrence rate than more extensive fasciectomy.

Open Fasciotomy

Open fasciotomy releases the cord through an incision without removing large amounts of diseased fascia.

Limited Fasciectomy

Limited or selective fasciectomy removes the pathological fascial cords responsible for the contracture while preserving uninvolved tissue.

This is one of the most commonly used operative approaches.

Extensive Fasciectomy

More extensive fasciectomy may be considered for severe or recurrent disease but carries increased risks of wound complications, nerve injury, stiffness, and vascular compromise.

Dermofasciectomy

In aggressive or recurrent disease, involved skin and underlying diseased fascia may be removed together.

A skin graft is then used to cover the defect.

Amputation

Amputation is rarely required and is reserved for severe, recurrent, painful, or nonfunctional digits in which repeated reconstructive procedures are unlikely to provide useful function.

Factors Affecting Procedure Selection

Treatment planning should consider the degree and location of contracture, patient age, occupation, general health, condition of the palmar skin, presence of arthritis, previous procedures, and likelihood of recurrence.

Postoperative Splinting

The frequency and duration of postoperative splinting vary according to the procedure and severity of disease.

Historically, many patients have used extension splints for several months, including nighttime splinting during later recovery.

Return to Activity

Return to normal use depends on the treatment performed and wound healing.

After open surgery, substantial recovery of hand function is often expected within approximately 2–3 months, although more extensive disease may require longer rehabilitation.

Follow-Up

Prognosis

Approximately 80% of patients undergoing primary surgery may regain near-full flexion and extension, particularly when severe fixed PIP deformity is absent.

Aggressive Disease

Young male patients with a strong family history and other features of Dupuytren diathesis are more likely to experience rapid progression and recurrent contracture.

Associated Conditions and Severity

Patients with diabetes, epilepsy, or heavy alcohol exposure have historically been reported to develop more severe disease.

Recurrence

Recurrence rates vary widely according to disease biology, procedure, duration of follow-up, and definition of recurrence.

Published long-term recurrence rates have ranged from approximately 26–80%.

Need for Repeat Procedures

Many patients with recurrent disease do not require another operation.

Repeated procedures are most often necessary in younger patients with an aggressive Dupuytren diathesis.

Complications

Joint Stiffness

Finger stiffness is an important postoperative complication.

Early controlled motion, hand therapy, and patient education can reduce this risk.

Nerve Injury

Digital nerve injury may occur during surgery because the neurovascular bundles can be displaced or wrapped by diseased cords.

Historical rates of nerve injury have been approximately 1–3%, with greater risk during revision surgery.

Recurrence

Recurrence remains the major long-term problem.

Substantial recurrent disease may develop within 5–10 years, particularly in patients with aggressive disease.

Wound Problems

Skin necrosis, delayed wound healing, hematoma, infection, and scar sensitivity may occur following open fasciectomy, especially in severe or recurrent disease.

Vascular Injury

Digital vessels may be injured during difficult dissection, particularly when longstanding contracture has distorted normal anatomy.

Complex Regional Pain Syndrome

A small proportion of patients may develop disproportionate pain, swelling, stiffness, and autonomic changes consistent with complex regional pain syndrome.

Patient Monitoring

Patients undergoing surgery should initially be followed closely, often weekly during the first postoperative month, to monitor wound healing and identify stiffness, infection, or neurovascular problems.

After healing is established, follow-up may be performed as clinically needed.

Long-term reassessment should document finger extension, MCP and PIP contracture, recurrence of cords, hand function, and the need for additional treatment.