Xeroderma pigmentosum: oldest living survivor?
Xeroderma pigmentosum is an infrequently occurring disease characterized by premature solar skin degeneration owing to an inherent deficiency in the enzymatic process of excision repair of x-ray-induced DNA alterations. Currently, there are six known genetic forms of this disease. The presence or absence of central nervous system involvement is a manifestation of the heterogeneity of the disease. Survival beyond the third decade of life is unusual. The authors present a 46-year-old patient with proven xeroderma pigmentosum who manifests many characteristic features of this affliction and may be one of the oldest, if not the oldest, living survivor of this unusual disease.
D000375:Aging; D002280:Basal Cell Carcinoma / Q000503:physiopathology; D002294:Carcinoma, Squamous Cell / Q000503:physiopathology; D005260:Female; D006801:Humans; D008545:Melanoma / Q000503:physiopathology; D008875:Middle Aged; D011379:Prognosis; D012878:Skin Neoplasms / Q000503:physiopathology*; D014983:Xeroderma Pigmentosum / Q000503:physiopathology*