Families

Xeroderma pigmentosum, resulting from mutations in the XPCgene, presents with hypersensitivity of the skin to ultraviolet light-induced freckle-like pigmentation changes and carcinogenesis. Prevalence of XP in the West is approx. 1 in 500,000, but is much higher in Japan (1 in 20,000) and North Africa. 30 - 40% of XP patients in the West are mutated in XPC¸ whereas in Japan, only 3% are XPC. Inheritance is autosomal recessive.