Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report.

ABSTRACT:

Background

Epidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance.

Case presentation

We report a case of two sisters with clinically epidermodysplasia verruciformis specific lesions on the face, neck, trunk, and extremities. PCR analysis indicated the presence of human papillomavirus type 5 in the lesions. Electron microscopic examination showed viral-like particles in keratinocyte nuclei and the stratum corneum of the epidermodysplasia verruciformis lesions. In addition, we examined the EVER1 and EVER2 genes using eight different primer pairs without finding any nonsense or frameshift mutations in the gDNA from lymphocytes

SUBMITTER: Yoshida R 

PROVIDER: S-EPMC4110534 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature