Xeroderma pigmentosum, resulting from mutations in the ERCC4/XPFgene, 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 are mutated in XPF. Inheritance is autosomal recessive.
XPF