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.
References in periodicals archive ?
ISLAMABAD, March 10, 2010 (Balochistan Times): A team of doctors, examining the seven affected children of uncommon skin disease in Landi Khosa village of Balochistan in its report claimed possibility of genetic skin disorder xeroderma pigmentosa in patients.
Epibulbar squamous cell carcinomas in brothers with xeroderma pigmentosa.