ImmunoDeficiency Resource (IDR)

The disease is characterized by chronic infection with human papillomavirus (HPV). Widespread skin eruptions of flat-to-papillomatous, wartlike lesions and reddish brown pigmented plaques on the trunk, the hands, the upper and lower extremities, and the face are characteristic. The lesions may transform into malignant carcinomas, usually after age 30 years. Skin cancers initially appear on sun-exposed areas, such as the face and the ear lobes. Patients with EV are usually infected with multiple types of HPV. More than 30 HPV types, including types 3, 5a, 5b, 8-10, 12, 14, 15, 17, 19-21, 23-26, 37, 38, and 47, have been identified in EV tumors. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas. The lesions often resemble verrucae planae. The mucous membranes, hair, and nails are not affected. Malignant degeneration, usually of the superficial basal cell type, is frequent. Characteristic changes in the epidermal cells with peculiar vacuolization are observed.