KEGG   DISEASE: Epidermodysplasia verruciformis
Entry
H00842                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
  Viral infections characterised by skin or mucous membrane lesions
   Human papillomavirus infection of skin or mucous membrane
    1E83  Wart virus proliferation in immune-deficient states
     H00842  Epidermodysplasia verruciformis
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]
Other DBs
ICD-11: 1E83
MeSH: D004819
OMIM: 226400 618231 618267 618307 618309
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
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