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Epidermodysplasia verruciformis(EV)

MedGen UID:
41831
Concept ID:
C0014522
Neoplastic Process
Synonyms: Disease, Lewandowsky-Lutz; Disease, Lutz-Lewandowsky; Epidermodysplasia Verruciformis; Lewandowsky Lutz Disease; Lewandowsky-Lutz Disease; Lutz Lewandowsky Disease; Lutz-Lewandowsky Disease
SNOMED CT: Epidermodysplasia verruciformis (19138001); Lewandowsky-Lutz disease (19138001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009176
OMIM®: 226400
OMIM® Phenotypic series: PS226400
Orphanet: ORPHA302

Definition

Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermodysplasia verruciformis
Follow this link to review classifications for Epidermodysplasia verruciformis in Orphanet.

Professional guidelines

PubMed

Zhu P, Qi RQ, Yang Y, Huo W, Zhang Y, He L, Wang G, Xu J, Zhang F, Yang R, Tu P, Ma L, Liu Q, Li Y, Gu H, Cheng B, Chen X, Chen A, Xiao S, Jin H, Zhang J, Li S, Yao Z, Pan W, Yang H, Shen Z, Cheng H, Song P, Fu L, Chen H, Geng S, Zeng K, Wang J, Tao J, Chen Y, Wang X, Gao XH
J Evid Based Med 2022 Sep;15(3):284-301. Epub 2022 Sep 18 doi: 10.1111/jebm.12494. PMID: 36117295Free PMC Article
Moore S, Rady P, Tyring S
Int J Dermatol 2022 Nov;61(11):1325-1335. Epub 2021 Aug 17 doi: 10.1111/ijd.15857. PMID: 34403500
Lippman SM, Meyskens FL Jr
J Am Coll Nutr 1988 Aug;7(4):269-84. doi: 10.1080/07315724.1988.10720244. PMID: 3062055

Suggested Reading

Recent clinical studies

Etiology

Shimizu A, Yamaguchi R, Kuriyama Y
J Dermatol 2023 Mar;50(3):290-298. Epub 2023 Jan 5 doi: 10.1111/1346-8138.16697. PMID: 36601717
Smola S
Adv Exp Med Biol 2020;1268:195-209. doi: 10.1007/978-3-030-46227-7_10. PMID: 32918220
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Nunes EM, Talpe-Nunes V, Sichero L
Clinics (Sao Paulo) 2018 Aug 20;73(suppl 1):e489s. doi: 10.6061/clinics/2018/e489s. PMID: 30133564Free PMC Article
Burger B, Itin PH
Curr Probl Dermatol 2014;45:123-31. Epub 2014 Mar 17 doi: 10.1159/000356068. PMID: 24643182

Diagnosis

Zhu P, Qi RQ, Yang Y, Huo W, Zhang Y, He L, Wang G, Xu J, Zhang F, Yang R, Tu P, Ma L, Liu Q, Li Y, Gu H, Cheng B, Chen X, Chen A, Xiao S, Jin H, Zhang J, Li S, Yao Z, Pan W, Yang H, Shen Z, Cheng H, Song P, Fu L, Chen H, Geng S, Zeng K, Wang J, Tao J, Chen Y, Wang X, Gao XH
J Evid Based Med 2022 Sep;15(3):284-301. Epub 2022 Sep 18 doi: 10.1111/jebm.12494. PMID: 36117295Free PMC Article
Moore S, Rady P, Tyring S
Int J Dermatol 2022 Nov;61(11):1325-1335. Epub 2021 Aug 17 doi: 10.1111/ijd.15857. PMID: 34403500
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Hunzeker CM, Soldano AC, Prystowsky S
Dermatol Online J 2008 May 15;14(5):2. PMID: 18627738
Dyall-Smith D, Cowen P, Varigos G
Australas J Dermatol 1989;30(2):81-5. doi: 10.1111/j.1440-0960.1989.tb00424.x. PMID: 2486177

Therapy

Moore S, Rady P, Tyring S
Int J Dermatol 2022 Nov;61(11):1325-1335. Epub 2021 Aug 17 doi: 10.1111/ijd.15857. PMID: 34403500
Smola S
Adv Exp Med Biol 2020;1268:195-209. doi: 10.1007/978-3-030-46227-7_10. PMID: 32918220
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
Weiss RA
Br J Hosp Med (Lond) 2016 Oct;77(10):565-568. doi: 10.12968/hmed.2016.77.10.565. PMID: 27723397
Androphy EJ
Ciba Found Symp 1986;120:221-34. doi: 10.1002/9780470513309.ch15. PMID: 2424679

Prognosis

Kinariwalla N, Coromilas AJ, Garzon MC, Levin LE, Magro C, Lauren CT
Pediatr Dermatol 2021 Nov;38(6):1541-1545. Epub 2021 Oct 20 doi: 10.1111/pde.14701. PMID: 34669978
Béziat V
Hum Genet 2020 Jun;139(6-7):919-939. Epub 2020 May 20 doi: 10.1007/s00439-020-02183-x. PMID: 32435828Free PMC Article
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. PMID: 24051018
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
Jablonska S, Orth G, Jarzabek-Chorzelska M, Rzesa G, Obałek S, Glinski W, Favre M, Croissant O
J Invest Dermatol 1979 Mar;72(3):114-9. doi: 10.1111/1523-1747.ep12530383. PMID: 217936

Clinical prediction guides

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. PMID: 21242344
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
Majewski S, Jabłońska S
Arch Dermatol 1995 Nov;131(11):1312-8. PMID: 7503577
Galloway DA, McDougall JK
Adv Virus Res 1989;37:125-71. doi: 10.1016/s0065-3527(08)60834-9. PMID: 2557758
Orth G, Jablonska S, Breitburd F, Favre M, Croissant O
Bull Cancer 1978;65(2):151-64. PMID: 212142

Recent systematic reviews

Neagu N, Dianzani C, Venuti A, Bonin S, Voidăzan S, Zalaudek I, Conforti C
J Eur Acad Dermatol Venereol 2023 Jan;37(1):40-46. Epub 2022 Sep 1 doi: 10.1111/jdv.18548. PMID: 36000380
Ramezani M, Sadeghi M
Pol J Pathol 2017;68(4):330-342. doi: 10.5114/pjp.2017.73929. PMID: 29517204
Imahorn E, Yüksel Z, Spoerri I, Gürel G, Imhof C, Saraçoğlu ZN, Koku Aksu AE, Rady PL, Tyring SK, Kempf W, Itin PH, Burger B
J Eur Acad Dermatol Venereol 2017 Oct;31(10):1722-1726. Epub 2017 Aug 4 doi: 10.1111/jdv.14431. PMID: 28646613

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