Xeroderma pigmentosum, resulting from mutations in the XPE/DDB2 gene, 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. In the XP cohort, XPE is relatively rare, accounting for less than 10% of XP patients in the West¸ and has not been reported in Japan. Inheritance is autosomal recessive.
XPE