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Epidermodysplasia verruciformis, susceptibility to, 2(EV2)

MedGen UID:
1648344
Concept ID:
C4722258
Finding
Synonym: Epidermodysplasia verruciformis 2
 
Gene (location): TMC8 (17q25.3)
 
Monarch Initiative: MONDO:0032614
OMIM®: 618231

Definition

Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. 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 (summary by Ramoz et al., 2000). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). [from OMIM]

Clinical features

From HPO
Verruca plana
MedGen UID:
547216
Concept ID:
C0276262
Disease or Syndrome
Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.
Squamous cell carcinoma of the skin
MedGen UID:
107512
Concept ID:
C0553723
Neoplastic Process
Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.
Persistent human papillomavirus infection
MedGen UID:
1690100
Concept ID:
C5139087
Disease or Syndrome
Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.

Recent clinical studies

Etiology

Venuti A, Lohse S, Tommasino M, Smola S
Philos Trans R Soc Lond B Biol Sci 2019 May 27;374(1773):20180287. doi: 10.1098/rstb.2018.0287. PMID: 30955489Free PMC Article
Sichero L, Rollison DE, Amorrortu RP, Tommasino M
Acta Cytol 2019;63(2):100-108. Epub 2019 Jan 23 doi: 10.1159/000492659. PMID: 30673666
Shruti S, Siraj F, Singh A, Ramesh V
Acta Dermatovenerol Alp Pannonica Adriat 2017 Sep;26(3):59-61. doi: 10.15570/actaapa.2017.19. PMID: 28941263
Castro FA, Ivansson EL, Schmitt M, Juko-Pecirep I, Kjellberg L, Hildesheim A, Gyllensten UB, Pawlita M
Int J Cancer 2012 Jan 15;130(2):349-55. Epub 2011 May 5 doi: 10.1002/ijc.26016. PMID: 21387292Free PMC Article
Pennington BE, Stasko T
J Natl Compr Canc Netw 2004 Jan;2(1):31-41. doi: 10.6004/jnccn.2004.0002. PMID: 19777693

Diagnosis

Godfred AC, Thomas Z, Peter D, Joseph A, Ravichandran L, George AA, Pulimood SA, Gaikwad P, Babu R, Thomas M, Thomas N, Chapla A
Am J Dermatopathol 2024 Jun 1;46(6):373-376. Epub 2024 Apr 4 doi: 10.1097/DAD.0000000000002657. PMID: 38574087
Doria M, Moscato GMF, Di Cesare S, Di Matteo G, Sgrulletti M, Bachelerie F, Marin-Esteban V, Moschese V
Front Immunol 2022;13:799564. Epub 2022 Jan 26 doi: 10.3389/fimmu.2022.799564. PMID: 35154113Free PMC Article
Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE
J Allergy Clin Immunol 2011 Jun;127(6):1329-41.e2; quiz 1342-3. Epub 2011 Apr 22 doi: 10.1016/j.jaci.2011.02.047. PMID: 21514636
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. PMID: 21196704
Gober MD, Rady PL, He Q, Tucker SB, Tyring SK, Gaspari AA
J Invest Dermatol 2007 Apr;127(4):817-20. Epub 2006 Nov 30 doi: 10.1038/sj.jid.5700641. PMID: 17139267

Therapy

Huang S, Wu JH, Lewis DJ, Rady PL, Tyring SK
Int J Dermatol 2018 Nov;57(11):1344-1350. Epub 2018 Aug 29 doi: 10.1111/ijd.14196. PMID: 30156265
Kehdy J, Erickson C, Rady P, Tyring S, Gaspari AA
Cutis 2015 Aug;96(2):114-8. PMID: 26367749
Sunohara M, Ozawa T, Morimoto K, Harada T, Ishii M, Fukai K
Osaka City Med J 2012 Dec;58(2):77-82. PMID: 23610850
Rogers HD, Macgregor JL, Nord KM, Tyring S, Rady P, Engler DE, Grossman ME
J Am Acad Dermatol 2009 Feb;60(2):315-20. doi: 10.1016/j.jaad.2008.08.035. PMID: 19150275
Gewirtzman A, Bartlett B, Tyring S
Curr Opin Infect Dis 2008 Apr;21(2):141-6. doi: 10.1097/QCO.0b013e3282f486c9. PMID: 18317036

Prognosis

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. PMID: 21196704
Lazarczyk M, Cassonnet P, Pons C, Jacob Y, Favre M
Microbiol Mol Biol Rev 2009 Jun;73(2):348-70. doi: 10.1128/MMBR.00033-08. PMID: 19487731Free PMC Article
Ortak T, Uysal AC, Alagoz MS, Orbay H, Sensoz O
Dermatol Surg 2006 Feb;32(2):302-6. doi: 10.1111/j.1524-4725.2006.32056.x. PMID: 16442060

Clinical prediction guides

Doria M, Moscato GMF, Di Cesare S, Di Matteo G, Sgrulletti M, Bachelerie F, Marin-Esteban V, Moschese V
Front Immunol 2022;13:799564. Epub 2022 Jan 26 doi: 10.3389/fimmu.2022.799564. PMID: 35154113Free PMC Article
Hohenstein E, Rady PL, Hergersberg M, Huber AR, Tyring SK, Bregenzer T, Streit M, Itin P
Dermatology 2009;218(2):114-8. Epub 2008 Nov 13 doi: 10.1159/000174084. PMID: 19005244
Orth G
Curr Top Microbiol Immunol 2008;321:59-83. doi: 10.1007/978-3-540-75203-5_3. PMID: 18727487
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
zur Hausen H
Biochim Biophys Acta 1996 Oct 9;1288(2):F55-78. doi: 10.1016/0304-419x(96)00020-0. PMID: 8876633

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