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19 Cards in this Set
- Front
- Back
Clinical Ehlers Danlos Syndrome
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Clinical EDS
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Inheritance
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Classical (I and II):
autosomal dominant; gene locus 2q31, 9q34 Hypermobility (III): autosomal dominant Vascular (IV): autosomal dominant; gene locus 2q31 |
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Inheritance
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Kyphoscoliosis (VI):
autosomal recessive; gene locus 1 p36.3 p36.2 Arthrochalasia: autosomal dominant (VIIA, VIIB); gene locus 7q22.1, I 7q21 22 Dermatosparaxis (VIIC): autosomal recessive ; gene locus 5q23 Other variants (V, VIII, X, XI) |
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Prenatal
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Classical (CVS)/amniocentesis deficient type V collagen in cultured cells DNA mutation analysis
Vascular CVS/amniocentesis decreased type IV collagen in cultured cells DNA analysis |
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Prenatal
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Kyphoscoliosis Amniocentesis decreased lysyl hydroxylase activity in cultured amniocytes DNA analysis
Arthrochalasia/Dermatosparaxis CVS/amniocentesis deficient type I collagen in cultured cells |
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Incidence
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Approximately 1:5,000; M=F, except X linked (all male)
Classical = 80% of all (EDS) Hypermobility= 10% ; Vascular = 4% of all EDS All other types comprise remaining 6% |
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Age at Presentation
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Birth to early childhood
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Pathogenesis
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Classical
Mutations in COL5A1 and COL5A2 chains in type V collagen account for about 50% of cases, deficiency of tenascin X in 3% of patients. Vascular Mutations in C0L3A1 results in abnormal synthesis, structure and secretion of type III collagen Kyphoscoliosis Mutation in procollagen lysyl 2 oxoglutarate 5 dioxygenase (PLOD) gene leads to deficient lysyl hydroxylase |
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Pathogenesis
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Arthrochalasia
Mutations involving the amino terminal propepticle cleavage sites of COL1 Al (type A) or COL1A2 (type B) leads to defective conversion of procollagen to collagen type Dermatosparaxis Recessive mutations in the type I collagen N peptidase gene Hypermobility COL3A1, TNXB |
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Clinical
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Classical (I and II)
Skin Hyperextensible with "snap back" elasticity, gaping wounds from minimal trauma, "cigarette paper" scars, molluscoid pseudotumors, calcified subcutaneous nodules, varicose veins, ecchymoses Musculoskeletal Hypermobile joints with potential delay in ambulation, recurrent joint dislocations, pes planus, genu recurvaturn, kyphoscoliosis, inguinal/umbilical hernia Cardiovascular Mitral valve prolapsed Craniofacial Epicanthic folds, hypertelorism, blue sclerae, + Gorlin's sign (ability to touch nose with tongue tip) Pregnancy Prematurity caused by early rupture of fetal membranes in affected fetus; postpar¬tum hemorrhage |
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Clinical
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Hypermobility (III)
Musculoskeletal Severe joint laxity with delay in ambulation, recurrent dislocations, early onset degenerative joint disease Skin Minimally affected with mild hyperextensiblity Cardiovascular Mitral valve prolapse Vascular (IV) Skin Thin, translucent, fragile with easily seen venous network; inextensible, ecchy-moses, varicose veins Musculoskeletal Minimal joint laxity (hands and feet), Arterial Aneurysm, dissection, rupture of large & medium sized vessels; arteriovenous fistulas Gastrointestinal Colonic rupture, recurrent abdominal pain Pregnancy Uterine rupture, arterial rupture, tearing of vaginal tissues Craniofacial Acrogeric facies Kyphoscoliosis (VI) Skin Hyperextensible, fragile, ecchymoses Musculoskeletal Newborn hypotonia, joint laxity, severe kyphoscoliosis Eyes Ruptured globe, retinal detachment, intraocular hemorrhage, keratoconus, blind¬ness |
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Clinical
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Arthrochalasia (VIIA, B)
Skin Mild hyperextensibility, fragility Musculoskeletal Congenital hip dislocation, severe joint hypermobility with dislocation of large and small joints, scoliosis, short stature Dermatosparaxis (VIIC) Skin Severe fragility, laxity with sagging redundancy; easy bruisability, umbilical/in¬guinal hernias, premature rupture of fetal membranes; normal wound healing Other Variants Type VIII Skin Hyperextensible, fragile, ecchymoses; pretibial, yellow brown, wrinkled scarring Mouth Severe periodontitis with resorption of alveolar bone and premature loss of per-manent teeth |
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Clinical
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Type X
Skin Mild hyperextensibility, petechiae, ecchymoses Musculoskeletal Joint laxity Type XI Musculoskeletal Large joint (especially hips, shoulders, and patella) laxity with recurrent dislocations |
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D/Dx
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Cutis laxa (p. 142)
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Lab
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Vascular Skin biopsy biochemical assay revealing decreased type III collagen in cultured T fibroblasts
2D Echo Kyphoscoliosis Skin biopsy: biochemical assay revealing reduced lysyl hydroxylase activity in cul-tured fibroblasts Arthrochalasia/Dermatosparaxis Electrophoresis reveals procollagen alpha] (1) or alpha 2(l) chains from cultured fi-broblasts or collagen |
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Managemenet
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General
Referral to dermatologist, orthopedic surgeon Skin protection from trauma Advise surgeons regarding poor wound healing Advise obstetrician regarding prematurity Examine first degree family members |
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Management
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Vascular
Referral to card iologist/cardiovascular surgeon Advise obstetrician regarding pregnancy avoidance/potential labor complicationc Avoid arteriography Avoid physical contact sports Referral to gastroenterologist if symptomatic Kyphoscoliosis Referral to ophthalmologist oral ascorbic acid Type VIII Referral to dentist Type X Referral to hematologist |
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Prognosis
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Vascular
Referral to card iologist/cardiovascular surgeon Advise obstetrician regarding pregnancy avoidance/potential labor complicationc Avoid arteriography Avoid physical contact sports Referral to gastroenterologist if symptomatic Kyphoscoliosis Referral to ophthalmologist oral ascorbic acid Type VIII Referral to dentist Type X Referral to hematologist |
