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Autosomal Dominant Epidermodysplasia Verruciformis Lacking a Known EVER1 or EVER2 Mutation
Author(s) -
McDermott David F.,
Gammon Bryan,
Snijders Peter J.,
Mbata Ihunanya,
Phifer Beth,
Howland Hartley A.,
Lee ChyiChia Richard,
Murphy Philip M.,
Hwang Sam T.
Publication year - 2009
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2008.00853.x
Subject(s) - epidermodysplasia verruciformis , genodermatosis , nonsense mutation , nonsense , genetics , mutation , medicine , biology , gene , virus , missense mutation
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.