H00842 | |
H number | H00842 |
Name | Epidermodysplasia verruciformis |
Description | Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis versicolor-like macules, flat wart-like papules and development of cutaneous carcinomas. |
Category | Skin disease |
Network | - |
Gene | (EV1) TMC6 [HSA:11322] [KO:K21988] (EV2) TMC8 [HSA:147138] [KO:K21988] (EV3) CIB1 [HSA:10519] [KO:K17259] (EV4) RHOH [HSA:399] [KO:K07873] (EV5) IL7 [HSA:3574] [KO:K05431] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 1E83 MeSH: D004819 OMIM: 226400 618231 618267 618307 618309 |
Reference | PMID:17910717 AUTHORS Gul U, Kilic A, Gonul M, Cakmak SK, Bayis SS TITLE Clinical aspects of epidermodysplasia verruciformis and review of the literature. JOURNAL Int J Dermatol 46:1069-72 (2007) DOI:10.1111/j.1365-4632.2006.03014.x PMID:18317036 AUTHORS Gewirtzman A, Bartlett B, Tyring S TITLE Epidermodysplasia verruciformis and human papilloma virus. JOURNAL Curr Opin Infect Dis 21:141-6 (2008) DOI:10.1097/QCO.0b013e3282f486c9 PMID:30068544 (CIB1 TMC6 TMC8) AUTHORS de Jong SJ, Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL TITLE The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to beta-papillomaviruses. JOURNAL J Exp Med 215:2289-2310 (2018) DOI:10.1084/jem.20170308 PMID:22850876 (RHOH) AUTHORS Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E TITLE Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. JOURNAL J Clin Invest 122:3239-47 (2012) DOI:10.1172/JCI62949 PMID:25981006 (IL7) AUTHORS Horev L, Unger S, Molho-Pessach V, Meir T, Maly A, Stepensky P, Zamir M, Keller B, Babay S, Warnatz K, Ramot Y, Zlotogorski A TITLE Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency. JOURNAL J Am Acad Dermatol 72:1082-4 (2015) DOI:10.1016/j.jaad.2015.02.1118 |