Work

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman

Year: 2018

Type: article

Abstract: Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease that results in sensitivity to ultraviolet (UV) radiation with characteristic cutaneous pigmentary changes and a high frequency of sunlight-induced cutaneous and ocular neoplasms. Phenotypic changes in XP arise from defective repair of UV-induced DNA damage including cyclobutane pyrimidine dimers and 6-4 photoproducts.1,2 The nucleotide excision repair (NER) pathway is the primary mechanism for excising these UV-induced lesions, and pathogenic mutations within the NER pathway result in one of the 7 classical XP complementation groups (XP-A to XP-G).

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2018.08.013