Some genodermatoses can be ruled out simply by the fact that the patient is too old:
• | Gardner’s syndrome – colon CA by age 30 if no prophylactic colectomy |
• | arginosuccinic aciduria (urea cycle defect – die as infants or are severely mentally retarded) |
• | Menke’s kinky hair syndrome - inevitable lethal neurologic decline; death by 2-3 years of age |
• | Wiskott-Aldrich syndrome – usually death by age 6 from infection or bleeding |
• | ataxia-telangiectasia – most patients confined to wheelchair by age 10; die of malignancy or infection in second decade |
vs. "late onset" genodermatoses:
• | Dowling-Degos disease (AD) age 20-30’s |
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