IngentaConnect Autosomal Dominant Epidermodysplasia Verruciformis Lacking a Know...

Authors: McDermott, David F.; Gammon, Bryan; Snijders, Peter J.¹; Mbata, Ihunanya²; Phifer, Beth³; Howland Hartley, A.; Lee, Chyi-Chia Richard⁴; Murphy, Philip M.²; Hwang, Sam T.⁵

Source: Pediatric Dermatology, Volume 26, Number 3, May/June 2009 , pp. 306-310(5)

Publisher: Blackwell Publishing

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.

Document Type: Research article

DOI: 10.1111/j.1525-1470.2008.00853.x

Affiliations: 1: Department of Pathology, Molecular Pathology Unit, VU University Medical Center, Amsterdam, the Netherlands 2: Molecular Signaling Section, NIAID, NIH, Bethesda, Maryland 3: Southern Maryland Skin Specialists, Prince Frederick, Maryland 4: Laboratory of Pathology, NCI, NIH, Bethesda, Maryland 5: Dermatology Branch, NCI, NIH, Bethesda, Maryland

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Autosomal Dominant Epidermodysplasia Verruciformis Lacking a Known EVER1 or EVER2 Mutation