Professionals

Xeroderma pigmentosum, resulting from mutations in the POLHgene, 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. 15 - 20% of XP patients in the West and 30% in Japan are mutated in POLH. Inheritance is autosomal recessive.