期刊
PEDIATRIC DERMATOLOGY
卷 26, 期 3, 页码 306-310出版社
WILEY
DOI: 10.1111/j.1525-1470.2008.00853.x
关键词
-
资金
- NIH
- NIH from Pfizer, Inc
- NIH, National Cancer Institute, Center for Cancer Research
- National Institute of Allergy, Immunology and Infectious Diseases
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.
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