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xeroderma pigmentosa

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xeroderma pigmentosa
An AR  genetic condition characterized by a sensitivity to all sources of UV radiation; XP Pts cannot repair UV light-induced damage to pyrimidine nucleotide–cytosine, thymidine dimers due to lack of one or more multigene products or complementation groups Clinical Incidence 2/106; normal at birth, freckling, xeroderma by age 3, accompanied by telangiectasia, keratoacanthomas, keratoses, scarring, skin cancer–eg, BCC, SCC, melanoma, internal malignancy–fibrosarcoma, angiosarcoma Treatment High-dose isotretinoin may be effective in chemoprophylaxis of skin CA in Pts with XP. See Photoactivation.


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