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12 Cards in this Set
- Front
- Back
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Clinical Werner Syndrome
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Inheritance
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Autosomal recessive; RECQL2 gene (or WRN gene) on 8p12 p11
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Prenatal
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DNA analysis
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Incidence
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1 20:1,000,000; over 150 cases reported; M= F
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Age at Presentation
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Third to fourth decade of life
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Pathogenesis
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Mutation in RECQL2, a gene encoding a DNA helicase enzyme, leads to increased frequency of recombination with a predisposition toward accelerated aging and cancer
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Clinical
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Skin
Sclerodermoid changes increased acrally and facially with atrophy, mottled hyper¬pigmentation, telangiectasias, soft tissue calcifications, leg ulcerations; circum¬scribed hyperkeratoses over bony prominences with ulceration; generalized loss subcutaneous fat Hair Canities; progressive, premature hair loss Craniofacial Bird like facies with beaked, pinched nose, taut circumoral skin, inelastic ears Musculoskeletal Short stature with growth arrest at puberty, muscular wasting, thin, spindly extremities, pes planus, osteoporosis, osteoarthritis |
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Clinical
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Eyes
Posterior, subcapsular cataracts Ear Nose-Throat High pitched, hoarse voice Cardiovascular Premature atherosclerosis with angina, myocardial infarction Endocrine Diabetes mellitus, hypogonadism Neoplasm (10%) Fibrosarcoma, osteosarcoma, cutaneous carcinoma, meningioma, adenocarcinoma |
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D/Dx
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Progeria (p. 156) Rothmund Thomson syndrome (p. 238) Scleroderma/CREST syndrome Myotonic dystrophy
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Lab
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Urinary hyaluronic acid increased; fasting serum glucose X ray of extremities
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Management
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Referral to symptom specific specialist: dermatologist, rheumatologist, ophthalmologist, cardiologist, endocrinologist, oncologist, orthopedic surgeon
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Prognosis
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Premature death from malignancy, myocardial infarction, or cerebrovascular accident by the fourth to sixth decade
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