Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease

ConclusionThe relatively high proportion of EV patients without mutation in TMC6/8 indicates the existence of EV‐causing mutations in additional, presently unknown gene(s). However, a homozygous TMC8 splice site mutation in our patients resulted in aberrant transcripts which cannot retain the healthy phenotype. The literature review revealed that HPV‐5 is the most commonly identified HPV in EV patients, but HPV‐3, HPV‐14, and HPV‐20 were unexpectedly identified more frequently than HPV‐8.This article is protected by copyright. All rights reserved. (Source: Journal of the European Academy of Dermatology and Venereology)

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