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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
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
Photodynamic treatment for viral infections of the skin.
Rossi R, Bruscino N, Ricceri F, Grazzini M, Dindelli M, Lotti T
G Ital Dermatol Venereol 2009 Feb;144(1):79-83. PMID: 19218913

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

Beta human papillomaviruses infection and skin carcinogenesis.
Bandolin L, Borsetto D, Fussey J, Da Mosto MC, Nicolai P, Menegaldo A, Calabrese L, Tommasino M, Boscolo-Rizzo P
Rev Med Virol 2020 Jul;30(4):e2104. Epub 2020 Mar 30 doi: 10.1002/rmv.2104. PMID: 32232924
Beta Human Papillomavirus and Associated Diseases.
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
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
The biology of beta human papillomaviruses.
Tommasino M
Virus Res 2017 Mar 2;231:128-138. Epub 2016 Nov 14 doi: 10.1016/j.virusres.2016.11.013. PMID: 27856220
Human papillomaviruses and non-melanoma skin cancer.
McLaughlin-Drubin ME
Semin Oncol 2015 Apr;42(2):284-90. Epub 2014 Dec 31 doi: 10.1053/j.seminoncol.2014.12.032. PMID: 25843732

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
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
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
Dermoscopy of benign and malignant neoplasms in the pediatric population.
Haliasos HC, Zalaudek I, Malvehy J, Lanschuetzer C, Hinter H, Hofmann-Wellenhof R, Braun R, Marghoob AA
Semin Cutan Med Surg 2010 Dec;29(4):218-31. doi: 10.1016/j.sder.2010.10.003. PMID: 21277535
The human papillomaviruses.
Orth G, Jablonska S, Breitburd F, Favre M, Croissant O
Bull Cancer 1978;65(2):151-64. PMID: 212142

Therapy

Beta human papillomaviruses infection and skin carcinogenesis.
Bandolin L, Borsetto D, Fussey J, Da Mosto MC, Nicolai P, Menegaldo A, Calabrese L, Tommasino M, Boscolo-Rizzo P
Rev Med Virol 2020 Jul;30(4):e2104. Epub 2020 Mar 30 doi: 10.1002/rmv.2104. PMID: 32232924
The biology of beta human papillomaviruses.
Tommasino M
Virus Res 2017 Mar 2;231:128-138. Epub 2016 Nov 14 doi: 10.1016/j.virusres.2016.11.013. PMID: 27856220
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
HPV-associated skin disease.
Akgül B, Cooke JC, Storey A
J Pathol 2006 Jan;208(2):165-75. doi: 10.1002/path.1893. PMID: 16362995
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
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
Lesions With an Epidermal Hyperplastic Pattern: Morphologic Clues in the Differential Diagnosis.
Fernandez-Flores A
Am J Dermatopathol 2016 Jan;38(1):1-16; quiz 17-9. doi: 10.1097/DAD.0000000000000324. PMID: 26730692
Diseases associated with human papillomavirus infection.
Cubie HA
Virology 2013 Oct;445(1-2):21-34. Epub 2013 Aug 9 doi: 10.1016/j.virol.2013.06.007. PMID: 23932731
Biology and pathological associations of the human papillomaviruses: a review.
Cheah PL, Looi LM
Malays J Pathol 1998 Jun;20(1):1-10. PMID: 10879257

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

Acquired epidermodysplasia verruciformis syndrome in HIV-infected patients: a systematic review.
Cuestas D, Gómez A, Neri Morales C, Motta A, Rolon M, Suarez S, Polo R
Arch Dermatol Res 2024 Jul 13;316(7):471. doi: 10.1007/s00403-024-03016-x. PMID: 39001899Free PMC Article
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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