3 years ago

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

R. Ono, C. Nishigori, T. Suzuki, T. Masaki, K. Okamura, E. Nakano, M.-H. Lee, K. Sugasawa
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. This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/bjd.16339

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