Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation

David F. McDermott, Bryan Gammon, Peter J. Snijders, Ihunanya Mbata, Beth Phifer, A. Howland Hartley, Chyi Chia Richard Lee, Philip M. Murphy, Samuel T Hwang

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

Epidermodysplasia verruciformis is a rare genodermatosis characterized by abnormal susceptibility to infection with specific human papillomavirus serotypes. Epidermodysplasia verruciformis is a genetically heterogeneous disease, and autosomal recessive and X-linked inheritance patterns have been reported. Nonsense mutations in the genes EVER1 and EVER2 have been identified in over 75% of cases. We present epidermodysplasia verruciformis in a father and a son with typical histologic and clinical findings that occur in the absence of mutations in EVER1 or EVER2. Epidermodysplasia verruciformis in this father/son pair in a nonconsanguinous pedigree is consistent with autosomal dominant inheritance. This is the first report of autosomal dominant transmission of epidermodysplasia verruciformis, providing further evidence of the genetic heterogeneity of epidermodysplasia verruciformis.

Original languageEnglish (US)
Pages (from-to)306-310
Number of pages5
JournalPediatric Dermatology
Volume26
Issue number3
DOIs
StatePublished - May 2009
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

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    McDermott, D. F., Gammon, B., Snijders, P. J., Mbata, I., Phifer, B., Howland Hartley, A., Lee, C. C. R., Murphy, P. M., & Hwang, S. T. (2009). Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. Pediatric Dermatology, 26(3), 306-310. https://doi.org/10.1111/j.1525-1470.2008.00853.x