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BMC Dermatology

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Open Access 01-12-2014 | Case report

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

Authors: Rui Yoshida, Toshihiko Kato, Masahiko Kawase, Mariko Honda, Tsuyoshi Mitsuishi

Published in: BMC Dermatology | Issue 1/2014

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 of the elder sister.

Conclusions

In this report, the patient’s parents did not have epidermodysplasia verruciformis lesions or a consanguineous marriage. EV did not develop in the elder sister until five years of age, so the parents did not perceive EV as an inherited disease. The probability that EV developed in both sisters was only 6.25%. Thus, it is rare for both sisters to develop epidermodysplasia verruciformis lesions considering that the parents were presumed to be carriers and the disease reveal an autosomal recessive pattern of inheritance.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-5945/14/12/prepub

Title: Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report
Authors: Rui Yoshida
Toshihiko Kato
Masahiko Kawase
Mariko Honda
Tsuyoshi Mitsuishi
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Dermatology / Issue 1/2014
Electronic ISSN: 1471-5945
DOI: https://doi.org/10.1186/1471-5945-14-12

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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