Overview of genes involved in Epidermodysplasia verruciformis
Paper Details
Overview of genes involved in Epidermodysplasia verruciformis
Abstract
Epidermodysplasia verruciformis also known as EV is a rare skin disorder caused by genetic mutations. These mutations can lead to susceptibility of beta human papilloma virus infection in which body having clinical manifestations of flat warts, macules and pityriasis versicolor-like lesions. Normal population is asymptomatic for HPV but genetically affected EV individuals may develop cutaneous malignancy especially squamous cell carcinoma in third or fourth decade of life. Cancer may be progressive towards UV rays and sun exposed regions of the body. Disease can be designated as typical or atypical type. Typical EV as keratinocyte intrinsic immunity defects leading to develop lesions by beta HPVs infection, atypical EV as T cells deficiency to cause immunosuppression. Most of typical EV cases involve alteration of transmembrane channel like genes family named as EVER1 and EVER2 genes. Another recently discovered CIB1 mutation also performing crucial role in developing typical EV manifestations. Atypical EV cases involve different genes like LCK, RHOH, STK4, DOCK8, COROIA, IL7, DCLRE1C, CARMIL2, ITK, RASGRP1, ANKRD26 and TPP2. Most of atypical mutations can be loss of function mutation and patients are immunodeficient. This review comprises of role of these genes, their mutations and their role in leukocyte and keratinocyte immunity to develop EV disease.
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Sobia Munir, Ayub kakar, Saliha Samiullah (2019), Overview of genes involved in Epidermodysplasia verruciformis; IJB, V15, N4, October, P188-202
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