Families

Xeroderma pigmentosum, resulting from mutations in the ERCC5/XPG gene, presents with hypersensitivity of the skin to ultraviolet light-induced freckle-like pigmentation changes and carcinogenesis. Patients present with extreme sunburn sensitivity and neurological degeneration. 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. Less than 10% of XP patients in the West are mutated in XPG, but XPGhas not been reported in Japan. Inheritance is autosomal recessive.