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EPIDERMODYSPLASIA VERRUCIFORMIS(EV)

MedGen UID:
41831
Concept ID:
C0014522
Neoplastic Process
Synonyms: EV
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Epidermodysplasia verruciformis (19138001); Lewandowsky-Lutz disease (19138001)
 
Genes (locations): TMC6 (17q25.3); TMC8 (17q25.3)
OMIM®: 226400
Orphanet: ORPHA302

Definition

Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer (Ramoz et al., 2000). EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas. [from OMIM]

Clinical features

Skin Basal Cell Carcinoma
MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)
Verrucae
MedGen UID:
777120
Concept ID:
C3665596
Finding
Warts are growths on your skin caused by an infection with humanpapilloma virus, or HPV. Types of warts include . -Common warts, which often appear on your fingers . -Plantar warts, which show up on the soles of your feet . -Genital warts, which are a sexually transmitted disease . -Flat warts, which appear in places you shave frequently . In children, warts often go away on their own. In adults, they tend to stay. If they hurt or bother you, or if they multiply, you can remove them. Chemical skin treatments usually work. If not, various freezing, surgical and laser treatments can remove warts. .
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Skin Basal Cell Carcinoma
MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)
Verrucae
MedGen UID:
777120
Concept ID:
C3665596
Finding
Warts are growths on your skin caused by an infection with humanpapilloma virus, or HPV. Types of warts include . -Common warts, which often appear on your fingers . -Plantar warts, which show up on the soles of your feet . -Genital warts, which are a sexually transmitted disease . -Flat warts, which appear in places you shave frequently . In children, warts often go away on their own. In adults, they tend to stay. If they hurt or bother you, or if they multiply, you can remove them. Chemical skin treatments usually work. If not, various freezing, surgical and laser treatments can remove warts. .

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEPIDERMODYSPLASIA VERRUCIFORMIS
Follow this link to review classifications for EPIDERMODYSPLASIA VERRUCIFORMIS in Orphanet.

Recent clinical studies

Etiology

de Oliveira WR, da Cruz Silva LL, Neto CF, Tyring S
J Cutan Med Surg 2015 Jul-Aug;19(4):416-21. Epub 2015 Mar 18 doi: 10.1177/1203475415576859. [Epub ahead of print] PMID: 26156649
Kalinska-Bienias A, Kostrzewa G, Malejczyk M, Ploski R, Majewski S
Clin Exp Dermatol 2015 Apr;40(3):318-23. Epub 2014 Dec 12 doi: 10.1111/ced.12506. [Epub ahead of print] PMID: 25495765
Burger B, Itin PH
Curr Probl Dermatol 2014;45:123-31. Epub 2014 Mar 17 doi: 10.1159/000356068. [Epub ahead of print] PMID: 24643182
Lowe SM, Katsidzira L, Meys R, Sterling JC, de Koning M, Quint W, Nathoo K, Munyati S, Ndhlovu CE, Salisbury JR, Bunker CB, Corbett EL, Miller RF, Ferrand RA
Clin Infect Dis 2012 May;54(10):e119-23. Epub 2012 Apr 3 doi: 10.1093/cid/cis118. [Epub ahead of print] PMID: 22474219Free PMC Article
Arnold AW, Hofbauer GF
Curr Probl Dermatol 2012;43:49-56. Epub 2012 Feb 17 doi: 10.1159/000335151. [Epub ahead of print] PMID: 22377919

Diagnosis

de Oliveira WR, da Cruz Silva LL, Neto CF, Tyring S
J Cutan Med Surg 2015 Jul-Aug;19(4):416-21. Epub 2015 Mar 18 doi: 10.1177/1203475415576859. [Epub ahead of print] PMID: 26156649
Kirchhof MG, Au S
CMAJ 2015 Feb 3;187(2):126-8. Epub 2014 Sep 2 doi: 10.1503/cmaj.140198. [Epub ahead of print] PMID: 25183723Free PMC Article
Mizuno Y, Kato G, Shu E, Ohnishi H, Fukao T, Ohara O, Fukumoto H, Katano H, Seishima M
Acta Derm Venereol 2015 Jan;95(1):98-9. doi: 10.2340/00015555-1868. PMID: 24710670
Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM
J Clin Immunol 2014 Oct;34(7):871-90. Epub 2014 Jul 30 doi: 10.1007/s10875-014-0074-8. [Epub ahead of print] PMID: 25073507Free PMC Article
Fernandez KH, Rady P, Tyring S, Stone MS
Pediatr Dermatol 2014 May-Jun;31(3):400-2. Epub 2012 Sep 3 doi: 10.1111/j.1525-1470.2012.01822.x. [Epub ahead of print] PMID: 22938530

Therapy

Kehdy J, Erickson C, Rady P, Tyring S, Gaspari AA
Cutis 2015 Aug;96(2):114-8. PMID: 26367749
de Oliveira WR, da Cruz Silva LL, Neto CF, Tyring S
J Cutan Med Surg 2015 Jul-Aug;19(4):416-21. Epub 2015 Mar 18 doi: 10.1177/1203475415576859. [Epub ahead of print] PMID: 26156649
Kirchhof MG, Au S
CMAJ 2015 Feb 3;187(2):126-8. Epub 2014 Sep 2 doi: 10.1503/cmaj.140198. [Epub ahead of print] PMID: 25183723Free PMC Article
Yoshida R, Kato T, Kawase M, Honda M, Mitsuishi T
BMC Dermatol 2014 Jul 21;14:12. doi: 10.1186/1471-5945-14-12. [Epub ahead of print] PMID: 25048734Free PMC Article
Fernandez KH, Rady P, Tyring S, Stone MS
Pediatr Dermatol 2014 May-Jun;31(3):400-2. Epub 2012 Sep 3 doi: 10.1111/j.1525-1470.2012.01822.x. [Epub ahead of print] PMID: 22938530

Prognosis

Hoesly F, Cappel M
JAMA Dermatol 2014 Mar;150(3):327-8. doi: 10.1001/jamadermatol.2013.6332. PMID: 24402672
Connolly K, Manders P, Earls P, Epstein RJ
Cancer Treat Rev 2014 Mar;40(2):205-14. Epub 2013 Aug 22 doi: 10.1016/j.ctrv.2013.08.005. [Epub ahead of print] PMID: 24051018
Fernandez KH, Rady P, Tyring S, Stone MS
Pediatr Dermatol 2014 May-Jun;31(3):400-2. Epub 2012 Sep 3 doi: 10.1111/j.1525-1470.2012.01822.x. [Epub ahead of print] PMID: 22938530
Arnold AW, Burger B, Kump E, Rufle A, Tyring SK, Kempf W, Häusermann P, Itin PH
Dermatology 2011 Feb;222(1):81-6. Epub 2010 Dec 29 doi: 10.1159/000322536. [Epub ahead of print] PMID: 21196704
Boxman IL, Russell A, Mulder LH, Bavinck JN, ter Schegget J, Green A; Collaborators of the Nambour Prevention Study
J Invest Dermatol 2001 Nov;117(5):1108-12. doi: 10.1046/j.1523-1747.2001.01499.x. PMID: 11710920

Clinical prediction guides

de Oliveira WR, da Cruz Silva LL, Neto CF, Tyring S
J Cutan Med Surg 2015 Jul-Aug;19(4):416-21. Epub 2015 Mar 18 doi: 10.1177/1203475415576859. [Epub ahead of print] PMID: 26156649
Jacobelli S, Laude H, Carlotti A, Rozenberg F, Deleuze J, Morini JP, Franck N, Gorin I, Avril MF, Dupin N
Arch Dermatol 2011 May;147(5):590-6. Epub 2011 Jan 17 doi: 10.1001/archdermatol.2010.399. [Epub ahead of print] PMID: 21242344
Michael KM, Waterboer T, Pfister H, Gariglio M, Majewski S, Favre M, Pawlita M
J Invest Dermatol 2010 Mar;130(3):841-8. Epub 2009 Nov 19 doi: 10.1038/jid.2009.356. [Epub ahead of print] PMID: 19924140
Boxman IL, Mulder LH, Noya F, de Waard V, Gibbs S, Broker TR, ten Kate F, Chow LT, ter Schegget J
J Invest Dermatol 2001 Dec;117(6):1397-404. doi: 10.1046/j.0022-202x.2001.01602.x. PMID: 11886500
Ramoz N, Taïeb A, Rueda LA, Montoya LS, Bouadjar B, Favre M, Orth G
J Invest Dermatol 2000 Jun;114(6):1148-53. doi: 10.1046/j.1523-1747.2000.00996.x. PMID: 10844558

Recent systematic reviews

EBPG Expert Group on Renal Transplantation
Nephrol Dial Transplant 2002;17 Suppl 4:31-6. PMID: 12091640
Sullivan TJ, Boulton JE, Whitehead KJ
Clin Experiment Ophthalmol 2002 Feb;30(1):23-7. PMID: 11885790

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