Familial Epidermodysplasia Verruciformis with Alpha Human Papilloma Virus 6/11 Infection and a Novel TMC6 Mutation: Case Report of Two Siblings

Abstract

Epidermodysplasia verruciformis (EDV) is a rare autosomal recessive disorder marked by persistent beta human papilloma virus (HPV) infections. The pathogenesis involves mutations in TMC6 and TMC8, disrupting keratinocyte immunity and facilitating HPV proliferation. The EVER1-EVER2-CIB1 complex, integral to zinc regulation in keratinocytes, is compromised, allowing viral persistence. This case report details two brothers with inherited EDV, notable for the presence of alpha HPV types 6 and 11, which is atypical for EDV. The younger sibling exhibited widespread flat-topped papules and plaques since age three, with histopathology confirming EDV. Whole genome sequencing revealed a homozygous missense mutation (p.Gly682Val) in exon 17 of the TMC6 gene, a novel finding not previously documented. The older brother presented with similar lesions from age two; however, genetic testing was not performed due to financial constraints.