Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type.

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Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type.

Photodermatol Photoimmunol Photomed. 2018 Apr 23;:

Authors: Hong WJ, Lee SE, Roh MR, Kim JE, Nishigori C, Kim SC

Abstract
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by photosensitivity and increased risk for developing multiple skin neoplasms. Approximately 80 percent of XP patients have a nucleotide excision repair (NER) defect leading to the defective repair of DNA damage by ultraviolet radiations (UVR). The XP variant (XP-V) subtype (OMIM no.278750) is caused by mutation in the POLH gene (OMIM *603968) which encodes polymerase (pol)eta, a member of the Y family of bypass DNA polymerases that facilitate DNA translesion synthesis. This article is protected by copyright. All rights reserved.

PMID: 29682812 [PubMed - as supplied by publisher]

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