Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 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.
McDermott
David F
DF
Molecular Signaling Section, NIAID, NIH, Bethesda, Maryland, USA.
Gammon
Bryan
B
Snijders
Peter J
PJ
Mbata
Ihunanya
I
Phifer
Beth
B
Howland Hartley
A
A
Lee
Chyi-Chia Richard
CC
Murphy
Philip M
PM
Hwang
Sam T
ST
D000328:Adult; D002648:Child; D018389:Codon, Nonsense; D004819:Epidermodysplasia Verruciformis / Q000235:genetics* / Q000473:pathology / Q000821:virology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D030361:Papillomavirus Infections / Q000150:complications / Q000235:genetics
D018389:Codon, Nonsense; D008565:Membrane Proteins; C470314:TMC6 protein, human; C470315:TMC8 protein, human
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