Epidermodysplasia verruciformis. A case report and brief literature review

Epidermodysplasia Verruciformis (Lewandowsky and Lutz's Dysplasia, EV) is a rare autosomal recessive disease manifested by multiple HPV-associated skin lesions. To date, no more than 500 patients with this form of genodermatosis are known in the world. Hereditary forms of EV are caused by the presence of inactivating mutations in the TMC6, TMC8, CIB1, RHOH, and IL7 genes in a homozygous or compound heterozygous form. A non-classical variant of hereditary EV associated with primary T-cell immunodeficiency as a result of mutations in the genes CORO1A, CARMIL2, DCLRE1C, DOCK8, ECM1, GATA2, LCK, MST1, RASGRP1, TPP2 is also described. Acquired EV develops, as a rule, against the background of secondary immunodeficiency of various origins.

The low frequency and insufficient diagnostic experience explains the lack of treatment standards and clinical recommendations for patients with EV. A part of researchers describe the treatment of EV using chemotherapeutic drugs, immunomodulators, interferons, retinoids and other drugs, in combination with surgical excision or destruction of foci by physical methods. This article presents the clinical case of aggressive form of EV without previous immunodeficiency and alteration of key genes with a description of the patient's experience of treatment – combination of the retinoids and CO2-laser destruction of skin formations.