Dermatology Commons^™

Epidermodysplasia Verruciformis: Inborn Errors Of Immunity To Human Beta-Papillomaviruses, Sarah J. De Jong, Elias Imahorn, Peter Itin, Jouni Uitto, Gerard Orth, Emmanuelle Jouanguy, Jean-Laurent Casanova, Bettina Burger

Department of Dermatology and Cutaneous Biology Faculty Papers

Epidermodysplasia verruciformis (EV) is an autosomal recessive skin disorder with a phenotype conditional on human beta-papillomavirus (beta-HPV) infection. Such infections are common and asymptomatic in the general population, but in individuals with EV, they lead to the development of plane wart-like and red or brownish papules or pityriasis versicolor-like skin lesions, from childhood onwards. Most patients develop non-melanoma skin cancer (NMSC), mostly on areas of UV-exposed skin, from the twenties or thirties onwards. At least half of the cases of typical EV are caused by biallelic loss-of-function mutations of TMC6/EVER1 or TMC8/EVER2. The cellular and molecular basis of disease in …