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11 Cards in this Set
- Front
- Back
Clinical Pseudoxanthoma Elasticum
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Inheritance
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Autosomal recessive (most common); autosomal dominant; ABCC6 (adenosine triphosphate [ATP] binding cassette subfamily C member 6) transporter gene on 16p13
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Prenatal
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DNA mutation analysis if defect known
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Incidence
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Approximately 1:100,000; M=F
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Age at Presentation
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Childhood to second or third decade of life
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Pathogenesis
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Mutation in ABCC6 transmembrane transporter gene that encodes a multidrug resistance protein; the correlation of this gene defect with the phenotype has not elucidated
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Clinical
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Skin
Yellow papules coalescing to plaques overlying redundant, lax, soft skin folds or sides of neck, axillae, antecubital fossae, abdomen, groin, thighs Mucous Membranes Yellow papules on labial mucosa, soft palate, rectal and vaginal mucosa Eyes Angioid streaks (rupture in Bruch's membrane secondary to elastic fiber defect macular degeneration, retinal hemorrhage causing blindness, retinal pigmentation alteration Cardiovascular Gastric artery hemorrhage (common) with epistaxis, hematemesis; claudication, creased/absent peripheral pulses, hypertension, angina pectoris, myocardial intim tion, cerebrovascular accidents, mitral valve prolapse Obstetrics increased first trimester miscarraige, increased cardiovascular complications |
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D/dx
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Cutis laxa (p. 142) Angioid streaks: Sickle cell anemia, Paget's disease of bone, hyperphosphaternia EDS (p. 134)
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Lab
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Skin biopsy (affected, normal, or cicatricial skin) Von Kossa stain (calcium), Verhoeff van Gieson stain (curled elastin fibers) Funcloscopy X ray of extremity or abdomen if symptomatic
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Management
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Complete physical examination and regular follow up with primary care physician
Referral to dermatologist, ophthalmologist Referral to gastroenterologist, cardiologist, neurologist if symptomatic Referral to plastic surgeon cosmetic correction Advise obstetrician during pregnancy Restriction of calcium intake (controversial) Examination of first degree family members by dermatologist, ophthalmologist, cardiologist |
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Prognosis
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Shortened life span secondary to cardiovascular complications
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