Autosomal Dominant Epidermodysplasia Verruciformis Lacking a Known EVER1 or EVER2 Mutation
نویسندگان
چکیده
منابع مشابه
The EVER genes – the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients
In recent years, the two adjacent novel EVER1 and EVER2 genes have been identified, whose mutations are responsible for the development of epidermodysplasia verruciformis (EV). Epidermodysplasia verruciformis is a rare, autosomal recessive genodermatosis associated with increased risk of skin carcinoma. Up to now 7 mutations in the EVER1 gene and 5 mutations in the EVER2 gene have been identifi...
متن کاملExpression of the epidermodysplasia verruciformis-associated genes EVER1 and EVER2 is activated by exogenous DNA and inhibited by LMP1 oncoprotein from Epstein-Barr virus.
EVER1 and EVER2 are mutated in epidermodysplasia verruciformis patients, who are susceptible to human betapapillomavirus (HPV) infection. It is unknown whether their products control the infection of other viruses. Here, we show that the expression of both genes in B cells is activated immediately after Epstein-Barr virus (EBV) infection, whereas at later stages, it is strongly repressed via ac...
متن کاملTwo sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report
BACKGROUND Epidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance. CASE PRESENTATION We report a case of two sisters with clinically epidermodysplasia verruciformis specific lesions on the face, neck, trunk, and extremities. PCR analysis indi...
متن کاملEpidermodysplasia verruciformis in a young Chinese male
Yau Ma Tei Dermatology Clinic, 12/F, Yau Ma Tei Specialist Clinic, 143 Battery Street, Kowloon, Hong Kong A 22-year-old Chinese male patient presented with eighteen years history of extensive asymptomatic erythematous and hypopigmented papules over his hands, neck, back and knees. A diagnosis of epidermodysplasia verruciformis was made based on the characteristic clinical findings and the histo...
متن کاملHuman RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by increased susceptibility to specific human papillomaviruses, the betapapillomaviruses. These EV-HPVs cause warts and increase the risk of skin carcinomas in otherwise healthy individuals. Inactivating mutations in epidermodysplasia verruciformis 1 (EVER1) or EVER2 have been identified in most, but not all, patients...
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ژورنال
عنوان ژورنال: Pediatric Dermatology
سال: 2009
ISSN: 0736-8046,1525-1470
DOI: 10.1111/j.1525-1470.2008.00853.x