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Pathology- Adult Onset Still Disease
The cause is unknown, although it is thought that genetic factors (people with HLA-B 17 or HLA-DR2) or infectious etiologies (viral; Mycoplasma) could be at play.
most prevalent in people with ages ranging from 15 to 45.
Skin: Dermal edema with lymphocytic and histiocytic infiltration; blood vessel walls may exhibit C3 deposition.
Synovial tissue: Infiltration of mononuclear cells causes long-term inflammatory alterations.
One to two daily ("quotidian or biquotidian") fever spikes accompanied by the development of a salmon-colored maculopapular rash on the trunk and limbs; the rash can also be triggered by skin irritation (Koebner phenomenon); polyarthralgias and arthritis, which typically affect the PIP joints, knees, wrists, and ankles; sore throat; lymphadenopathy; pericarditis.
Imaging: Narrowing of the nonerosive joint space, typically observed in the wrists.
Results from the lab: raised liver transaminases, elevated ferritin levels, negative ANA and RF, elevated ESR, 60% of patients may exhibit reactive thrombocytosis and/or anemia, and leukocytosis.
Treatments: glucocorticoids, NSAIDs, and TNF inhibitors (such as rituximab) for cases that don't respond.
Adult Onset Still Disease.
The adult form of juvenile idiopathic arthritis with systemic onset is known as still disease.
A kind of rheumatoid arthritis that affects youngsters is called juvenile idiopathic arthritis (JIA).
It includes multiple subtypes: pauciarticular onset JIA (defined by age of onset < 5 years, large joint mild arthralgias, uveitis, and a positive ANA), polyarticular onset JIA (defined by destructive arthritis in knees and wrists or dactylitis), and systemic onset JIA (defined by fever, rash, anemia, and hepatosplenomegaly).
The cause is unknown, although it is thought that genetic factors (people with HLA-B 17 or HLA-DR2) or infectious etiologies (viral; Mycoplasma) could be at play.
most prevalent in people with ages ranging from 15 to 45.
Skin: Dermal edema with lymphocytic and histiocytic infiltration; blood vessel walls may exhibit C3 deposition.
Synovial tissue: Infiltration of mononuclear cells causes long-term inflammatory alterations.
One to two daily ("quotidian or biquotidian") fever spikes accompanied by the development of a salmon-colored maculopapular rash on the trunk and limbs; the rash can also be triggered by skin irritation (Koebner phenomenon); polyarthralgias and arthritis, which typically affect the PIP joints, knees, wrists, and ankles; sore throat; lymphadenopathy; pericarditis.
Imaging: Narrowing of the nonerosive joint space, typically observed in the wrists.
Results from the lab: raised liver transaminases, elevated ferritin levels, negative ANA and RF, elevated ESR, 60% of patients may exhibit reactive thrombocytosis and/or anemia, and leukocytosis.
Treatments: glucocorticoids, NSAIDs, and TNF inhibitors (such as rituximab) for cases that don't respond.
Adult Onset Still Disease.
The adult form of juvenile idiopathic arthritis with systemic onset is known as still disease.
A kind of rheumatoid arthritis that affects youngsters is called juvenile idiopathic arthritis (JIA).
It includes multiple subtypes: pauciarticular onset JIA (defined by age of onset < 5 years, large joint mild arthralgias, uveitis, and a positive ANA), polyarticular onset JIA (defined by destructive arthritis in knees and wrists or dactylitis), and systemic onset JIA (defined by fever, rash, anemia, and hepatosplenomegaly).
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Pathology - Osteoarthritis
wear-and-tear arthritis, which is the degeneration of articular cartilage as a result of cumulative mechanical stress to the joints.
affects women more frequently than men; typically manifests after age 50 and is linked to obesity.
Pathology
Joint: Osteophyte formation (growth of new bone at articular edges); joint mice (fractured osteophytes floating in synovial fluid); eburnation of bone (polishing of bone due to rubbing of bone with bone); joint cartilage flakes off and is eroded, exposing underlying bone.
Clinical Signs and Symptoms
Heberden nodes and Bouchard nodes, which are osteophytes at the DIP and PIP joints, respectively, may be seen. Joint pain and stiffness that gets worse with use most frequently occurs in the hip, knee, lumbosacral spine, MTP joint of the toe, and DIP and PIP joints of the fingers.
Visualization: joint space narrowing accompanied by subchondral sclerosis and osteophytes.
Treatment options include NSAIDs, weight loss if obese, injections of corticosteroids into the afflicted joint, and joint replacement surgery.
The location of joint involvement, laboratory tests (which are normal in osteoarthritis), and description of joint pain (the impact of mobility on pain) can be used to differentiate osteoarthritis from rheumatoid arthritis.
wear-and-tear arthritis, which is the degeneration of articular cartilage as a result of cumulative mechanical stress to the joints.
affects women more frequently than men; typically manifests after age 50 and is linked to obesity.
Pathology
Joint: Osteophyte formation (growth of new bone at articular edges); joint mice (fractured osteophytes floating in synovial fluid); eburnation of bone (polishing of bone due to rubbing of bone with bone); joint cartilage flakes off and is eroded, exposing underlying bone.
Clinical Signs and Symptoms
Heberden nodes and Bouchard nodes, which are osteophytes at the DIP and PIP joints, respectively, may be seen. Joint pain and stiffness that gets worse with use most frequently occurs in the hip, knee, lumbosacral spine, MTP joint of the toe, and DIP and PIP joints of the fingers.
Visualization: joint space narrowing accompanied by subchondral sclerosis and osteophytes.
Treatment options include NSAIDs, weight loss if obese, injections of corticosteroids into the afflicted joint, and joint replacement surgery.
The location of joint involvement, laboratory tests (which are normal in osteoarthritis), and description of joint pain (the impact of mobility on pain) can be used to differentiate osteoarthritis from rheumatoid arthritis.
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Ankylosing Spondylitis
Epidemiology of Ankylosing Spondylitis: Prevalent in young males who test positive for HLA-B27.
Clinical signs and symptoms include peripheral arthritis of the spine and major joints, uveitis, lower back pain and stiffness (particularly in the morning), elevated ESR, and a bamboo spine on radiographs.
Clinical signs and symptoms include peripheral arthritis of the spine and major joints, uveitis, lower back pain and stiffness (particularly in the morning), elevated ESR, and a bamboo spine on radiographs.
Psoriatic Arthritis
Etiology and Epidemiology of Psoriatic Arthritis: Usually appears between the ages of 30 and 50; 15% to 20% of psoriasis patients have this condition. Clinical signs include arthritis of the hands, foot, and major joints; sausage fingers (synovitis of the tendon sheath of the fingers); pitting of fingernails; inflammation of the eyes; and a radiograph-detected "pencil-in-cup" deformity of the DIP joints.
Reactive Arthritis
The etiology and epidemiology of reactive arthritis: reaction to a previous gastrointestinal or urinary tract infection (e.g., Shigella, Salmonella, or Chlamydia); particularly prevalent in young males who test positive for HLA-B27. Clinical signs and symptoms: The classic trifecta of conjunctivitis or uveitis, arthritis, and nongonococcal urethritis manifests as lower back discomfort and asymmetric joint stiffness, generally in the ankles or knees.
Enteropathies Arthritis
Enteropathies Arthritis: Most common in people who are HLA-B27 positive; associated with inflammatory bowel disease or gastrointestinal infections. Clinical signs and symptoms: Erythema nodosum and asymmetric oligoarthritis of the major joints (knees, spine) usually go away within a few months when inflammatory bowel disease is treated.
Treatments
NSAIDs, physical therapy, and intra-articular steroid injections are the three main forms of treatment for spondyloarthropathies.
Treatments
NSAIDs, physical therapy, and intra-articular steroid injections are the three main forms of treatment for spondyloarthropathies.
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Pathology - Gout
Caused by urate crystals that are deposited together as a result of hyperuricemia.
Primary: Occurs most frequently in middle-aged males and Pacific Islanders; caused by idiopathic hyperuricemia; risk factors include obesity, alcohol consumption, and hereditary vulnerability.
Secondary: Results from hyperuricemia brought on by underlying conditions such Lesch-Nyhan syndrome (HGPRT deficiency), myeloproliferative diseases, reduced urate excretion (renal illness), and medications.
Joint: Emejected synovium with inflammatory infiltrate; urate crystals (needle-shaped, negatively birefringent crystals) and neutrophils in synovial fluid; urate deposits can eventually cause cartilage degradation.
Tophi: Urate crystal cluster encircled by large cells, lymphocytes, and fibroblasts found in cartilage or soft tissues.
Acute arthritis may give way to chronic arthritis; tophi on the hands, feet, or ears may appear months after acute arthritis; urate nephropathy with interstitial deposit of urate crystals and obstruction by uric acid stones; swollen, tender joint with abrupt onset, frequently in MTP joint of big toe (podagra), foot, ankles, or knees.
Results from the lab: leukocytosis, elevated ESR, and hyperuricemia.
Treatments: probenecid or allopurinol for long-term care; colchicine, NSAIDs, and/or steroids for acute flare-ups.
Calcium pyrophosphate crystals (positive, birefringent, rhomboid crystals) deposited in joints are the source of pseudogout. Large joints, such as the knee, shoulders, and wrists, are typically affected, and it is more common among the elderly. NSAIDs or intra-articular steroids are used to treat it.
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Pathology - Duchenne Muscular Dystrophy
X-linked recessive condition Duchenne muscular dystrophy, which is characterized by a lack of dystrophin synthesis, mainly due to gene deletion.
impacts men and starts at age five.
Pathophysiology: Dystrophin is crucial in preserving the integrity of the myocyte membrane; its absence results in the degeneration of muscle fibers.
Muscle: Changes in muscle fiber size; deterioration and necrosis of muscle fibers; fat and connective tissue supplanting necrotic fibers.
Clinical Signs and Symptoms
weakness in the proximal muscles of the extremities (typically the pelvis), which develops superiorly and finally results in immobilization; pseudohypertrophy in the calves, which is caused by the replacement of muscle with fibrous and fatty tissue; and the ability to perform the Gowers maneuver, which involves using the arms to raise oneself from a crouch.
Scoliosis, heart arrhythmias, and dilated cardiomyopathies are among the complications.
Results from the lab: elevated serum CK.
Handling
There is evidence linking glucocorticoids to improved muscular function and strength.
The prognosis is poor; respiratory failure from involvement of respiratory muscles usually results in mortality by the age of 25.
A mutation in the dystrophin gene that results in decreased dystrophin production is the hallmark of Becker muscular dystrophy. It manifests similarly to Duchenne muscular dystrophy, although the prognosis is modestly better (mean age of death is 40) and the disease is clinically less severe.
X-linked recessive condition Duchenne muscular dystrophy, which is characterized by a lack of dystrophin synthesis, mainly due to gene deletion.
impacts men and starts at age five.
Pathophysiology: Dystrophin is crucial in preserving the integrity of the myocyte membrane; its absence results in the degeneration of muscle fibers.
Muscle: Changes in muscle fiber size; deterioration and necrosis of muscle fibers; fat and connective tissue supplanting necrotic fibers.
Clinical Signs and Symptoms
weakness in the proximal muscles of the extremities (typically the pelvis), which develops superiorly and finally results in immobilization; pseudohypertrophy in the calves, which is caused by the replacement of muscle with fibrous and fatty tissue; and the ability to perform the Gowers maneuver, which involves using the arms to raise oneself from a crouch.
Scoliosis, heart arrhythmias, and dilated cardiomyopathies are among the complications.
Results from the lab: elevated serum CK.
Handling
There is evidence linking glucocorticoids to improved muscular function and strength.
The prognosis is poor; respiratory failure from involvement of respiratory muscles usually results in mortality by the age of 25.
A mutation in the dystrophin gene that results in decreased dystrophin production is the hallmark of Becker muscular dystrophy. It manifests similarly to Duchenne muscular dystrophy, although the prognosis is modestly better (mean age of death is 40) and the disease is clinically less severe.
Duchenne Muscular Dystrophy
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Pathology - Oligodendroglioma
Uncommon noncancerous growth originating from oligodendrocytes.
Typically impacts individuals in their middle years.
The pathology is a well-defined, slow-growing gray mass typically containing cysts. It commonly occurs in the white matter of the cerebral hemispheres, particularly in the frontal lobe.
Microscopic: Uniform cell sheets with spherical nuclei and clear cytoplasm resembling a fried egg; often contains calcifications and enhanced vascularity.
Clinical Symptoms
Seizures, headaches, papilledema, and other indicators of elevated intracranial pressure.
Imaging reveals the presence of tumor calcification on a CT scan.
Therapy
Surgical removal, subsequent radiation, and chemotherapy.
The average survival time post-diagnosis ranges from 5 to 10 years.
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Pathology - Schwannoma
Typically noncancerous growths originating from Schwann cells.
Pathology: Gross Encapsulated masses, frequently with cystic regions, typically found in the cerebellopontine angle, where they might compress cranial nerve VIII (acoustic schwannoma).
Microscopic: Two patterns of growth:
(1) Antoni A consists of densely packed elongated cells with nuclei arranged in a palisade pattern; (2) Antoni B is characterized by a loose organization of cells with small microcysts.
Manifests symptoms related to nerve compression (cranial nerve VIII compression results in patients experiencing ipsilateral hearing loss, tinnitus, and vertigo), seizures, headaches, nausea and vomiting, and other indications of elevated intracranial pressure.
Therapy
Tumor removal surgery.
The prognosis is favorable.
Neurofibromatosis type 2 is linked to bilateral auditory schwannomas.
Pineal tumors typically affect young males aged 10 to 40. They exhibit Parinaud syndrome, which includes paralysis of upward gaze resulting from injury to the pretectal and superior colliculus, obstructive hydrocephalus due to compression of the aqueduct of Sylvius, and endocrine problems related to compression of the hypothalamus.
Typically noncancerous growths originating from Schwann cells.
Pathology: Gross Encapsulated masses, frequently with cystic regions, typically found in the cerebellopontine angle, where they might compress cranial nerve VIII (acoustic schwannoma).
Microscopic: Two patterns of growth:
(1) Antoni A consists of densely packed elongated cells with nuclei arranged in a palisade pattern; (2) Antoni B is characterized by a loose organization of cells with small microcysts.
Manifests symptoms related to nerve compression (cranial nerve VIII compression results in patients experiencing ipsilateral hearing loss, tinnitus, and vertigo), seizures, headaches, nausea and vomiting, and other indications of elevated intracranial pressure.
Therapy
Tumor removal surgery.
The prognosis is favorable.
Neurofibromatosis type 2 is linked to bilateral auditory schwannomas.
Pineal tumors typically affect young males aged 10 to 40. They exhibit Parinaud syndrome, which includes paralysis of upward gaze resulting from injury to the pretectal and superior colliculus, obstructive hydrocephalus due to compression of the aqueduct of Sylvius, and endocrine problems related to compression of the hypothalamus.
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Pathology- Medulloblastoma
Malignant tumor originating in the cerebellum, linked to a deletion on the short arm of chromosome 17 (17p-).
Primarily found in youngsters and represents 20% of all brain tumors in this age group.
The tumor is gray, well-defined, and situated at the midline of the cerebellum.
Microscopic examination reveals densely packed sheets of undifferentiated cells with numerous divisions, minimal cytoplasm, and intensely stained nuclei. The cells are frequently organized in a circular or pseudo-circular pattern around blood vessels.
Unstable walking; blockage of cerebrospinal fluid flow due to tumor compressing the fourth ventricle leading to obstructive hydrocephalus; seizures, headaches; nausea, vomiting; and other symptoms of elevated intracranial pressure.
Therapy Surgical intervention combined with radiation and chemotherapy.
The 5-year survival rate is 75% with complete removal of the tumor plus radiation therapy.
Malignant tumor originating in the cerebellum, linked to a deletion on the short arm of chromosome 17 (17p-).
Primarily found in youngsters and represents 20% of all brain tumors in this age group.
The tumor is gray, well-defined, and situated at the midline of the cerebellum.
Microscopic examination reveals densely packed sheets of undifferentiated cells with numerous divisions, minimal cytoplasm, and intensely stained nuclei. The cells are frequently organized in a circular or pseudo-circular pattern around blood vessels.
Unstable walking; blockage of cerebrospinal fluid flow due to tumor compressing the fourth ventricle leading to obstructive hydrocephalus; seizures, headaches; nausea, vomiting; and other symptoms of elevated intracranial pressure.
Therapy Surgical intervention combined with radiation and chemotherapy.
The 5-year survival rate is 75% with complete removal of the tumor plus radiation therapy.
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Pathology - Ependymoma
Tumor originating from the ependyma of the ventricular system.
Primarily found in youngsters, typically in the fourth ventricle, but can also develop in the spinal cord of adults.
Pathology: Solid, papillary masses protruding from the floor of the fourth ventricle.
The cells are uniform and round with nuclei distributed in a fibrillary stroma in a perivascular pseudorosette formation. Tumor cells frequently contain blepharoplasts, which are rods located near the nucleus and represent basal ciliary bodies.
Obstructive hydrocephalus occurs when a tumor blocks the flow of cerebrospinal fluid by compressing the fourth ventricle.
Clinical Symptoms and Signs
Seizures, headaches, nausea, vomiting, and other symptoms indicating elevated intracranial pressure.
Therapies
Surgical removal is challenging due to the close proximity of brainstem nuclei.
The prognosis is unfavorable with an average survival time of 4 years.
Tumor originating from the ependyma of the ventricular system.
Primarily found in youngsters, typically in the fourth ventricle, but can also develop in the spinal cord of adults.
Pathology: Solid, papillary masses protruding from the floor of the fourth ventricle.
The cells are uniform and round with nuclei distributed in a fibrillary stroma in a perivascular pseudorosette formation. Tumor cells frequently contain blepharoplasts, which are rods located near the nucleus and represent basal ciliary bodies.
Obstructive hydrocephalus occurs when a tumor blocks the flow of cerebrospinal fluid by compressing the fourth ventricle.
Clinical Symptoms and Signs
Seizures, headaches, nausea, vomiting, and other symptoms indicating elevated intracranial pressure.
Therapies
Surgical removal is challenging due to the close proximity of brainstem nuclei.
The prognosis is unfavorable with an average survival time of 4 years.
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Pathology - Neuroblastoma
Neoplasm originating from neural precursor cells; linked to N-myc oncogene amplification and deletions in the short arm of chromosome 1 (1p-).
Most frequently observed in young children, although does occasionally happen in adults.
Pathology: Typically originates in the adrenal medulla but can also develop in the sympathetic chain, pelvis, neck, or brain. It varies in size, may have well-defined borders, and can exhibit cyst formation or necrosis.
Microscopic examination reveals sheets of tiny cells with dark nuclei and little cytoplasm, typically organized in Homer-Wright pseudorosettes. These cells contain neurosecretory granules that store catecholamines.
The typical scenario involves a child under 2 years old presenting with a significant abdominal mass, high blood pressure, and weight loss. Additional symptoms consist of ecchymosis and proptosis (eye protrusion).
Older children might show signs of cancer spreading to the bone, liver, or lungs, which can cause symptoms including bone pain, respiratory issues, or gastrointestinal problems.
Laboratory results show elevated 24-hour urinary VMA and metanephrine levels, as well as higher plasma and urinary catecholamine levels.
Therapy
Combination of surgical removal and chemotherapy.
The prognosis varies depending on the patient's age and the stage of cancer at diagnosis. Younger patients and those with lower cancer stages tend to have a more favorable prognosis.
Neoplasm originating from neural precursor cells; linked to N-myc oncogene amplification and deletions in the short arm of chromosome 1 (1p-).
Most frequently observed in young children, although does occasionally happen in adults.
Pathology: Typically originates in the adrenal medulla but can also develop in the sympathetic chain, pelvis, neck, or brain. It varies in size, may have well-defined borders, and can exhibit cyst formation or necrosis.
Microscopic examination reveals sheets of tiny cells with dark nuclei and little cytoplasm, typically organized in Homer-Wright pseudorosettes. These cells contain neurosecretory granules that store catecholamines.
The typical scenario involves a child under 2 years old presenting with a significant abdominal mass, high blood pressure, and weight loss. Additional symptoms consist of ecchymosis and proptosis (eye protrusion).
Older children might show signs of cancer spreading to the bone, liver, or lungs, which can cause symptoms including bone pain, respiratory issues, or gastrointestinal problems.
Laboratory results show elevated 24-hour urinary VMA and metanephrine levels, as well as higher plasma and urinary catecholamine levels.
Therapy
Combination of surgical removal and chemotherapy.
The prognosis varies depending on the patient's age and the stage of cancer at diagnosis. Younger patients and those with lower cancer stages tend to have a more favorable prognosis.
