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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).
Autosomal recessive inheritance (Orphanet)
 
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

Clinical guideline for the diagnosis and treatment of cutaneous warts (2022).
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
Acquired epidermodysplasia verruciformis: clinical presentation and treatment update.
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
Utility of the Human Papillomavirus Vaccination in Management of HPV-associated Cutaneous Lesions.
Gay J, Johnson N, Kavuru V, Phillips M
Skin Therapy Lett 2021 Mar;26(2):6-8. PMID: 33769773

Suggested Reading

PubMed

Genetics of Skin Cancer (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389333
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Recent advances in cutaneous HPV infection.
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
Human Papillomaviruses and Skin Cancer.
Smola S
Adv Exp Med Biol 2020;1268:195-209. doi: 10.1007/978-3-030-46227-7_10. PMID: 32918220
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Epidemiology and biology of cutaneous human papillomavirus.
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
Epidermodysplasia verruciformis.
Burger B, Itin PH
Curr Probl Dermatol 2014;45:123-31. Epub 2014 Mar 17 doi: 10.1159/000356068. PMID: 24643182

Diagnosis

Epidermodysplasia Verruciformis: A Study of Clinicopathologic Features, Biomarkers, and Associated Malignancies in Indian Patients.
Mehrotra P, Tirumalae R, Ballal S
Am J Dermatopathol 2023 Sep 1;45(9):608-612. Epub 2023 Jul 11 doi: 10.1097/DAD.0000000000002491. PMID: 37462151
Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections.
Saeidian AH, Youssefian L, Naji M, Mahmoudi H, Barnada SM, Huang C, Naghipoor K, Hozhabrpour A, Park JS, Manzo Margiotta F, Vahidnezhad F, Saffarian Z, Kamyab-Hesari K, Tolouei M, Faraji N, Azimi SZ, Namdari G, Mansouri P, Casanova JL, Béziat V, Jouanguy E, Uitto J, Vahidnezhad H
JCI Insight 2023 Mar 8;8(5) doi: 10.1172/jci.insight.162558. PMID: 36602881Free PMC Article
Clinical guideline for the diagnosis and treatment of cutaneous warts (2022).
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
Acquired epidermodysplasia verruciformis: clinical presentation and treatment update.
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
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245

Therapy

Acquired epidermodysplasia verruciformis: clinical presentation and treatment update.
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
Human Papillomaviruses and Skin Cancer.
Smola S
Adv Exp Med Biol 2020;1268:195-209. doi: 10.1007/978-3-030-46227-7_10. PMID: 32918220
A novel approach to the classification of epidermodysplasia verruciformis.
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
Tumour-inducing viruses.
Weiss RA
Br J Hosp Med (Lond) 2016 Oct;77(10):565-568. doi: 10.12968/hmed.2016.77.10.565. PMID: 27723397
Papillomaviruses and interferon.
Androphy EJ
Ciba Found Symp 1986;120:221-34. doi: 10.1002/9780470513309.ch15. PMID: 2424679

Prognosis

Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.
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
Papillomavirus-associated squamous skin cancers following transplant immunosuppression: one Notch closer to control.
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
Association between epidermodysplasia verruciformis-associated human papillomavirus DNA in plucked eyebrow hair and solar keratoses.
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
Epidermodysplasia verruciformis versus disseminated verrucae planae: is epidermodysplasia verruciformis a generalized infection with wart virus?
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
Epidermodysplasia verruciformis in Nigerians.
Jacyk WK, Subbuswamy SG
Dermatologica 1979;159(3):256-65. doi: 10.1159/000250603. PMID: 157892

Clinical prediction guides

Claudin expression profile in flat wart and cutaneous squamous cell carcinoma in epidermodysplasia verruciformis.
da Cruz Silva LL, de Oliveira WRP, Pereira NV, Halpern I, Tanabe CKD, Mattos MSG, Sotto MN
Sci Rep 2020 Jun 9;10(1):9268. doi: 10.1038/s41598-020-66065-y. PMID: 32518268Free PMC Article
Viral carcinogenesis in skin cancer.
Molho-Pessach V, Lotem M
Curr Probl Dermatol 2007;35:39-51. doi: 10.1159/000106409. PMID: 17641489
Papillomavirus infections--a major cause of human cancers.
zur Hausen H
Biochim Biophys Acta 1996 Oct 9;1288(2):F55-78. doi: 10.1016/0304-419x(96)00020-0. PMID: 8876633
Human papillomaviruses and carcinomas.
Galloway DA, McDougall JK
Adv Virus Res 1989;37:125-71. doi: 10.1016/s0065-3527(08)60834-9. PMID: 2557758
The human papillomaviruses.
Orth G, Jablonska S, Breitburd F, Favre M, Croissant O
Bull Cancer 1978;65(2):151-64. PMID: 212142

Recent systematic reviews

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.
Biglari S, Moghaddam AS, Tabatabaiefar MA, Sherkat R, Youssefian L, Saeidian AH, Vahidnezhad F, Tsoi LC, Gudjonsson JE, Hakonarson H, Casanova JL, Béziat V, Jouanguy E, Vahidnezhad H
Genet Med 2024 Feb;26(2):101028. Epub 2023 Nov 14 doi: 10.1016/j.gim.2023.101028. PMID: 37978863Free PMC Article
The role of HPV in keratinocyte skin cancer development: A systematic review.
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
Human papilloma virus infection in basal cell carcinoma of the skin: a systematic review and meta-analysis study.
Ramezani M, Sadeghi M
Pol J Pathol 2017;68(4):330-342. doi: 10.5114/pjp.2017.73929. PMID: 29517204
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.
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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