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Pathology - Down Syndrome
95% of cases are caused by trisomy 21 (typically due to meiotic nondisjunction). Trisomy 21 becomes more common as women age, resulting in 1 in 25 infants to moms over 45 having Down syndrome.
Four percent of instances are caused by Robertsonian translocation. Chr 21's long arm is translocated to a different chromosome, typically chromosomes 14 or 22.
Mosaicism, which makes up 1% of cases, is caused by chr 21's nondisjunction during mitosis during embryogenesis.
Features
Extremely delayed development; atresia of the duodenum and esophagus; palmar crease in one hand only; small hands with simian crease; distinct features of the face: flat face, epicanthal folds, wide-set eyes, and Brushfield spots (white spots around the iris).
Congenital heart problems include AV valve anomalies, VSDs, and ostium primum ASD caused by endocardial cushion deficiencies.
Difficulties
Middle-aged individuals with Down syndrome are more likely to experience acute leukemias, be more vulnerable to infections, and experience degenerative brain changes that resemble Alzheimer's disease.
Duodenal atresia and congenital cardiac abnormalities should be treated as needed.
Prognosis: Life expectancy is decreased, yet more than 80% of patients live past the age of thirty.
95% of cases are caused by trisomy 21 (typically due to meiotic nondisjunction). Trisomy 21 becomes more common as women age, resulting in 1 in 25 infants to moms over 45 having Down syndrome.
Four percent of instances are caused by Robertsonian translocation. Chr 21's long arm is translocated to a different chromosome, typically chromosomes 14 or 22.
Mosaicism, which makes up 1% of cases, is caused by chr 21's nondisjunction during mitosis during embryogenesis.
Features
Extremely delayed development; atresia of the duodenum and esophagus; palmar crease in one hand only; small hands with simian crease; distinct features of the face: flat face, epicanthal folds, wide-set eyes, and Brushfield spots (white spots around the iris).
Congenital heart problems include AV valve anomalies, VSDs, and ostium primum ASD caused by endocardial cushion deficiencies.
Difficulties
Middle-aged individuals with Down syndrome are more likely to experience acute leukemias, be more vulnerable to infections, and experience degenerative brain changes that resemble Alzheimer's disease.
Duodenal atresia and congenital cardiac abnormalities should be treated as needed.
Prognosis: Life expectancy is decreased, yet more than 80% of patients live past the age of thirty.
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Pathology- Patau Syndrome and the Edwards Syndrome
Etiology
Trisomy 18 is the primary cause of Edwards syndrome, typically resulting from meiotic nondisjunction. Maternal age increases the incidence. A few cases are due to mosaicism, which is the outcome of chromosome 18's nondisjunction during mitosis during embryogenesis.
Trisomy 13 is the primary cause of Patau syndrome, typically resulting from meiotic nondisjunction.
Maternal age increases the incidence. A small number of cases are due to mosaicism, which is brought on by translocation between chromosomes 13 and 14 or mitotic nondisjunction of chr 13 during embryogenesis.
Edwards syndrome is characterized by a severe developmental delay, feet that rock back and forth, broad occiput, low-set ears, micrognathia (small jaw), congenital heart and renal abnormalities, and overlapping third and fourth fingers.
Microcephaly and holoprosencephaly, cleft lip and palate, microphthalmia (small eyes), polydactyly, congenital cardiac and kidney abnormalities, umbilical hernia, and rocker-bottom feet are all symptoms of Patau syndrome.
The Patau and Edwards syndromes are fatal during the first year of life.
Etiology
Trisomy 18 is the primary cause of Edwards syndrome, typically resulting from meiotic nondisjunction. Maternal age increases the incidence. A few cases are due to mosaicism, which is the outcome of chromosome 18's nondisjunction during mitosis during embryogenesis.
Trisomy 13 is the primary cause of Patau syndrome, typically resulting from meiotic nondisjunction.
Maternal age increases the incidence. A small number of cases are due to mosaicism, which is brought on by translocation between chromosomes 13 and 14 or mitotic nondisjunction of chr 13 during embryogenesis.
Edwards syndrome is characterized by a severe developmental delay, feet that rock back and forth, broad occiput, low-set ears, micrognathia (small jaw), congenital heart and renal abnormalities, and overlapping third and fourth fingers.
Microcephaly and holoprosencephaly, cleft lip and palate, microphthalmia (small eyes), polydactyly, congenital cardiac and kidney abnormalities, umbilical hernia, and rocker-bottom feet are all symptoms of Patau syndrome.
The Patau and Edwards syndromes are fatal during the first year of life.
Patau Syndrome
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Pathology- Prader-Willi Syndrome and Angelman Syndrome
The same deletion on chr 15q is the cause of both disorders.
demonstrates the phenomenon known as imprinting, in which the same mutation, depending on whether the altered chromosome was of paternal or maternal origin, leads in distinct phenotypes.
Prader-Willi syndrome: hypogonadism, hypotonia, developmental delay, and an absence of a gene on a paternally derived chromosome. Obesity frequently results in diabetes.
"Happy puppet" with ataxic movement and inappropriate laughter, seizures, developmental delay, and a deletion on a chromosome derived from the mother characterize Angelman syndrome.
symptom management under constant observation.
The same deletion on chr 15q is the cause of both disorders.
demonstrates the phenomenon known as imprinting, in which the same mutation, depending on whether the altered chromosome was of paternal or maternal origin, leads in distinct phenotypes.
Prader-Willi syndrome: hypogonadism, hypotonia, developmental delay, and an absence of a gene on a paternally derived chromosome. Obesity frequently results in diabetes.
"Happy puppet" with ataxic movement and inappropriate laughter, seizures, developmental delay, and a deletion on a chromosome derived from the mother characterize Angelman syndrome.
symptom management under constant observation.
Prader Willi Syndrome
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Pathology - Systemic Sclerosis
Although the etiology is uncertain, anomalies in immune system activation have been proposed.
most frequently affects women in the 30 to 50 age range.
General pathology: The skin, heart, lungs, joints, GI tract (particularly the esophagus), and kidneys are the organs most frequently affected by fibrosis and collagen deposition.
Skin: Possible subcutaneous calcifications; eventual dermal fibrosis; perivascular lymphocytic infiltration with edema.
GI tract: loss of villi and microvilli in the small bowel; fibrosis and atrophy of the muscles.
Joints: Synovial tissue hypertrophy accompanied by synovium inflammation.
Kidneys: Vascular fibrinoid necrosis; intimal thickening with collagenous deposition in vessel walls.
Lungs: Vasospasm-induced pulmonary hypertension; interstitial fibrosis.
Heart: myocardial fibrosis and pericarditis.
gastroesophageal reflux disease, dysphagia, pulmonary fibrosis, pulmonary hypertension, Raynaud phenomenon, nephritic syndrome, arrhythmias, arthralgias with joint contractures, hypertension, and extensive skin thickening (scleroderma).
Positive ANA and anti-Scl-70 antibodies were found in the lab.
Systemic sclerosis has no FDA-approved treatments. Variable outcomes have been observed in small studies assessing the effects of D-penicillamine, rnycophenolate mofetil, cyclophosphamide, and bone marrow transplant.
The term "CREST syndrome" describes a form of systemic sclerosis that mostly affects the face and hands. It is typically associated with telangiectasia, esophageal dysmotility (dysphagia), calcinosis, Raynaud phenomenon, and sclerodactyly (hands that resemble claws). An anticentromere antibody test result of positive is frequently linked to CREST syndrome.
Although the etiology is uncertain, anomalies in immune system activation have been proposed.
most frequently affects women in the 30 to 50 age range.
General pathology: The skin, heart, lungs, joints, GI tract (particularly the esophagus), and kidneys are the organs most frequently affected by fibrosis and collagen deposition.
Skin: Possible subcutaneous calcifications; eventual dermal fibrosis; perivascular lymphocytic infiltration with edema.
GI tract: loss of villi and microvilli in the small bowel; fibrosis and atrophy of the muscles.
Joints: Synovial tissue hypertrophy accompanied by synovium inflammation.
Kidneys: Vascular fibrinoid necrosis; intimal thickening with collagenous deposition in vessel walls.
Lungs: Vasospasm-induced pulmonary hypertension; interstitial fibrosis.
Heart: myocardial fibrosis and pericarditis.
gastroesophageal reflux disease, dysphagia, pulmonary fibrosis, pulmonary hypertension, Raynaud phenomenon, nephritic syndrome, arrhythmias, arthralgias with joint contractures, hypertension, and extensive skin thickening (scleroderma).
Positive ANA and anti-Scl-70 antibodies were found in the lab.
Systemic sclerosis has no FDA-approved treatments. Variable outcomes have been observed in small studies assessing the effects of D-penicillamine, rnycophenolate mofetil, cyclophosphamide, and bone marrow transplant.
The term "CREST syndrome" describes a form of systemic sclerosis that mostly affects the face and hands. It is typically associated with telangiectasia, esophageal dysmotility (dysphagia), calcinosis, Raynaud phenomenon, and sclerodactyly (hands that resemble claws). An anticentromere antibody test result of positive is frequently linked to CREST syndrome.
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Pathology - Marfan Syndrome
Caused by a mutation in the fibrillin gene on chromosome 15; 20% of mutations are sporadic, while the majority are hereditary (autosomal dominant).
Pathophysiology: A faulty extracellular matrix results from a mutation in the fibrillin gene, a glycoprotein component of microfibrils.
Cardiovascular conditions include mitral valve prolapse (caused by the loss of connective tissue support for the valvular leaflet) and cystic medial necrosis of the aorta (which causes the aortic valve to dilate and weaken, increasing the risk of an intimal tear).
Eye: Lens displacement or bilateral subluxation.
Skeletal: Pigeon-breast deformity; spinal deformities (kyphosis, scoliosis).
Tall height with long extremities, scoliosis, ectopia lentis (dislocation of lenses), hyperextensible joints, long tapering digits (arachnodactyly), and aortic valve insufficiency as a result of aortic root dilatation.
One of the complications is a higher chance of developing a dissecting aortic aneurysm.
Management
An aortic root replacement if necessary, angiotensin receptor blockers, regular eye exams, and a spine brace if necessary are all recommended.
Caused by a mutation in the fibrillin gene on chromosome 15; 20% of mutations are sporadic, while the majority are hereditary (autosomal dominant).
Pathophysiology: A faulty extracellular matrix results from a mutation in the fibrillin gene, a glycoprotein component of microfibrils.
Cardiovascular conditions include mitral valve prolapse (caused by the loss of connective tissue support for the valvular leaflet) and cystic medial necrosis of the aorta (which causes the aortic valve to dilate and weaken, increasing the risk of an intimal tear).
Eye: Lens displacement or bilateral subluxation.
Skeletal: Pigeon-breast deformity; spinal deformities (kyphosis, scoliosis).
Tall height with long extremities, scoliosis, ectopia lentis (dislocation of lenses), hyperextensible joints, long tapering digits (arachnodactyly), and aortic valve insufficiency as a result of aortic root dilatation.
One of the complications is a higher chance of developing a dissecting aortic aneurysm.
Management
An aortic root replacement if necessary, angiotensin receptor blockers, regular eye exams, and a spine brace if necessary are all recommended.
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Pathology - Ehlers-Danlos Syndrome (EDS)
A condition that has ten distinct variations, all of which are linked to improper collagen synthesis. Autosomal dominant (types I–IV, VIIA–B, VIII), autosomal recessive (types VI, VIIC, X), and X-linked recessive (types V, IX) are the three different modes of inheritance.
Pathophysiology: When collagen is mutated, the structures it makes up become weaker. This can result in hyperextensible joints due to weak tendons, skeletal abnormalities due to aberrant bone development, and a weakened skin and vascular wall that makes an organ vulnerable to injury.
Skin: A disorganized, twisted mass of differently sized collagen strands.
Depending on the version, presentations change.
Thin, hyperextensible skin, easily bruised, hypermobile joints worsened by dislocation, weak muscles, atypical teeth, and prolapsed mitral valve are common symptoms.
Treatment: symptomatic treatment for osteoarthritis; vitamin C supplements (involved in collagen formation).
A condition that has ten distinct variations, all of which are linked to improper collagen synthesis. Autosomal dominant (types I–IV, VIIA–B, VIII), autosomal recessive (types VI, VIIC, X), and X-linked recessive (types V, IX) are the three different modes of inheritance.
Pathophysiology: When collagen is mutated, the structures it makes up become weaker. This can result in hyperextensible joints due to weak tendons, skeletal abnormalities due to aberrant bone development, and a weakened skin and vascular wall that makes an organ vulnerable to injury.
Skin: A disorganized, twisted mass of differently sized collagen strands.
Depending on the version, presentations change.
Thin, hyperextensible skin, easily bruised, hypermobile joints worsened by dislocation, weak muscles, atypical teeth, and prolapsed mitral valve are common symptoms.
Treatment: symptomatic treatment for osteoarthritis; vitamin C supplements (involved in collagen formation).
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Pathology - Albinism and Vitiligo
Albinism : Melanocytes are produced from neural crest ectoderm, hence albinism may be associated to faulty neural crest cell migration. Tyrosinase deficiency or a lack of tyrosine uptake into the melanocyte are the two main causes of this inherited inability of melanocytes to synthesize melanin.
Vitiligo: Acquired loss of melanocytes; linked to autoimmune illnesses (Addison's disease, Hashimoto thyroiditis, Grave disease, pernicious anemia); potentially brought on by an autoimmune response or by toxic intermediates of melanocyte formation.
Albinism: May affect the skin and hair (oculocutaneous albinism) or the eyes (ocular albinism); skjn_ contains melanocytes.
Albinism: Hypopigmentation affecting the eyes, skin, and hair; may result in blindness. Vitiligo: Lack of melanocytes in skin.
Vitiligo: Irregular, flat patches of skin loss that typically affect the hands, axillae, or the area surrounding the mouth and eyes. Variable presence of antibodies against antimelanocytes in the lab.
Albinism: Sunscreen is required; there is no known treatment.
Sun protection and topical corticosteroids for vitiligo.
Patients who have vitiligo or albinism are more likely to develop actinic keratoses and skin malignancies.
Albinism : Melanocytes are produced from neural crest ectoderm, hence albinism may be associated to faulty neural crest cell migration. Tyrosinase deficiency or a lack of tyrosine uptake into the melanocyte are the two main causes of this inherited inability of melanocytes to synthesize melanin.
Vitiligo: Acquired loss of melanocytes; linked to autoimmune illnesses (Addison's disease, Hashimoto thyroiditis, Grave disease, pernicious anemia); potentially brought on by an autoimmune response or by toxic intermediates of melanocyte formation.
Albinism: May affect the skin and hair (oculocutaneous albinism) or the eyes (ocular albinism); skjn_ contains melanocytes.
Albinism: Hypopigmentation affecting the eyes, skin, and hair; may result in blindness. Vitiligo: Lack of melanocytes in skin.
Vitiligo: Irregular, flat patches of skin loss that typically affect the hands, axillae, or the area surrounding the mouth and eyes. Variable presence of antibodies against antimelanocytes in the lab.
Albinism: Sunscreen is required; there is no known treatment.
Sun protection and topical corticosteroids for vitiligo.
Patients who have vitiligo or albinism are more likely to develop actinic keratoses and skin malignancies.
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Pathology - Allergic Contact Dermatitis
Type IV hypersensitivity reaction following previous interaction with an allergen substance (such as poison ivy, nickel, latex, or UV radiation) can cause dermatitis.
may exhibit a variety of skin histopathologic characteristics based on the illness's stage.
Acute stage: Vesicles; perivascular lymphocytic infiltration in epidermis; eosinophils when medication reaction is the cause; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: lymphocytic infiltration in dermis; epidermis thickening with hyper- and parakeratosis.
After being exposed to the allergen for a few days, an acute case may show up as red, wet, itchy, and crusty papules and vesicles.
If left untreated, it can lead to thicker, elevated, and poorly defined plaques that scale.
Topical corticosteroids for treatment; removing the aggravating factors.
Type IV hypersensitivity reaction following previous interaction with an allergen substance (such as poison ivy, nickel, latex, or UV radiation) can cause dermatitis.
may exhibit a variety of skin histopathologic characteristics based on the illness's stage.
Acute stage: Vesicles; perivascular lymphocytic infiltration in epidermis; eosinophils when medication reaction is the cause; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: lymphocytic infiltration in dermis; epidermis thickening with hyper- and parakeratosis.
After being exposed to the allergen for a few days, an acute case may show up as red, wet, itchy, and crusty papules and vesicles.
If left untreated, it can lead to thicker, elevated, and poorly defined plaques that scale.
Topical corticosteroids for treatment; removing the aggravating factors.
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Pathology - Atopic Dermatitis (Eczema)
The precise cause of the condition is unknown, but immune system failure that results in IgE sensitization and subsequent epithelial inflammation has been theorized. The condition is frequently linked to a personal or familial history of allergies, asthma, or atopic dermatitis.
Most frequently manifests in youngsters under the age of four.
Depending on the stage of the illness, may show multiple histopathologic skin appearances (similar to allergic contact dermatitis).
Acute stage: perivascular lymphocytic infiltration in epidermis; vesicles; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: dermal lymphocytic infiltration, hyperkeratosis, and anaanthosis.
Prickly lesion episodes can be crusty, scaly, or exudative; they typically affect the hands, upper trunk, antecubital and popliteal folds, and the face (particularly the area around the eyes). In the event that the episodes are prolonged, the skin may thicken (lichenify) and produce dry, scaly patches.
Results of the lab: elevated IgE levels or eosinophilia may be observed.
Handling
Antihistamines, moisturizers, and topical corticosteroids are used to treat pruritus.
The precise cause of the condition is unknown, but immune system failure that results in IgE sensitization and subsequent epithelial inflammation has been theorized. The condition is frequently linked to a personal or familial history of allergies, asthma, or atopic dermatitis.
Most frequently manifests in youngsters under the age of four.
Depending on the stage of the illness, may show multiple histopathologic skin appearances (similar to allergic contact dermatitis).
Acute stage: perivascular lymphocytic infiltration in epidermis; vesicles; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: dermal lymphocytic infiltration, hyperkeratosis, and anaanthosis.
Prickly lesion episodes can be crusty, scaly, or exudative; they typically affect the hands, upper trunk, antecubital and popliteal folds, and the face (particularly the area around the eyes). In the event that the episodes are prolonged, the skin may thicken (lichenify) and produce dry, scaly patches.
Results of the lab: elevated IgE levels or eosinophilia may be observed.
Handling
Antihistamines, moisturizers, and topical corticosteroids are used to treat pruritus.
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occurs as a reaction to exposure to phannacologic agents, such as tetracyclines, penicillins, NSAIDs, sulfonamides, or phenytoin.
Bullous drug reactions occur across a range, with the least severe being toxic epidermal necrolysis (TEN), Stevens-Johnson syndrome (SJS), and erythema multiforme (EM).
Erythema Multiforme: Target-lesion biopsy reveals central necrosis with surrounding area of perivenular inflammation; necrotic keratinocytes are seen beneath a normal layer of stratum corneum; may also notice superficial perivascular lymphocytic infiltration and skin edema.
Erythema Multiforme: Usually accompanied by a sore throat and cough, macular, erythematous lesions grow into target or bullous lesions on the skin, most commonly the extremities.
Bullous drug reactions occur across a range, with the least severe being toxic epidermal necrolysis (TEN), Stevens-Johnson syndrome (SJS), and erythema multiforme (EM).
Erythema Multiforme: Target-lesion biopsy reveals central necrosis with surrounding area of perivenular inflammation; necrotic keratinocytes are seen beneath a normal layer of stratum corneum; may also notice superficial perivascular lymphocytic infiltration and skin edema.
Erythema Multiforme: Usually accompanied by a sore throat and cough, macular, erythematous lesions grow into target or bullous lesions on the skin, most commonly the extremities.
Steven Johnson Syndrome: Characterized by subepidermal blisters, necrotic keratinocytes, and perivascular dermal infiltration, it is comparable to Erythema Multiforme.
Steven Johnson Syndrome: Erythema Multiforme symptoms combined with involvement of two or more mucosal surfaces (often the mouth) and less than 10% of the body's surface area.
Steven Johnson Syndrome: Erythema Multiforme symptoms combined with involvement of two or more mucosal surfaces (often the mouth) and less than 10% of the body's surface area.
Toxic Epidermal Necrolysis is characterized by complete epidermal necrosis, detachment from the underlying dermis, and few signs of inflammation in the dermis or epidermis.
Toxic Epidermal Necrolysis : Steven Johnson Syndrome symptoms, including involvement of more than 30% of the body's surface area and the development of bullae, are indicative of toxic epidermal necrosis. Diffuse skin erythema/desquamation akin to a severe sunburn may also be observed.
Toxic Epidermal Necrolysis : Steven Johnson Syndrome symptoms, including involvement of more than 30% of the body's surface area and the development of bullae, are indicative of toxic epidermal necrosis. Diffuse skin erythema/desquamation akin to a severe sunburn may also be observed.
Toxic Epidermal Necrolysis
Treatment
The removal of the offending agent; supportive care, including wound care, electrolyte and hydration management, and pain control.
The severity of skin and mucosal involvement determines the potential for fatality in Steven Johnson Syndrome and Toxic Epidermal Necrolysis.
The removal of the offending agent; supportive care, including wound care, electrolyte and hydration management, and pain control.
The severity of skin and mucosal involvement determines the potential for fatality in Steven Johnson Syndrome and Toxic Epidermal Necrolysis.
