A case of xeroderma pigmentosum complementation group C with diverse clinical features

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by sensitivity to sunlight and increased risk of skin cancers. XP is classified into seven nucleotide excision repair-deficient types (A–G) and a variant type¹. Differential diagnosis of XP from other genetic pigmentary disorders such as dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH) should be considered, which is sometimes difficult without DNA repair tests or a genetic diagnosis². DSH and DUH are autosomal dominant diseases characterized by hypo-and hyperpigmented maculae. Recently, ABCB6 was identified as a responsible gene for DUH³.

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