Epidermodysplasia verruciformis (EV) is a rare genodermatosis that predisposes certain individuals to developing cutaneous malignancies caused by infectious agents. Mutations in the transmembrane channel gene TMC6 or TMC8 create patient susceptibility to infections by human papillomavirus (HPV) and the development of EV-typical plane warts. Mainly in the UV-exposed regions, affected individuals have a lifelong increased risk for the development of cutaneous malignancy, especially squamous cell carcinoma (SCC). EV is the first disease to correlate cancer and viral infection, therefore EV now serves as the cornerstone to our understanding of viral oncogenesis. The EV model of cutaneous SCC may be applied to the general population; it is suggested that the TMC mutations impair the immunity of the patients, supporting the amplification of specific HPV types. Despite several advances in our comprehension of EV, the pathogenesis of the disease is not well understood.
© 2014 S. Karger AG, Basel.