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Epidermodysplasia verruciformis, susceptibility to, 3(EV3)

MedGen UID:
1648390
Concept ID:
C4748876
Finding
Synonym: Epidermodysplasia verruciformis 3
 
Gene (location): CIB1 (15q26.1)
 
Monarch Initiative: MONDO:0032644
OMIM®: 618267

Definition

Epidermodysplasia verruciformis-3 (EV3) is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs (de Jong et al., 2018). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). [from OMIM]

Clinical features

From HPO
Squamous cell carcinoma
MedGen UID:
2874
Concept ID:
C0007137
Neoplastic Process
The presence of squamous cell carcinoma of the skin.
Verrucae
MedGen UID:
777120
Concept ID:
C3665596
Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Skin basal cell carcinoma
MedGen UID:
1648304
Concept ID:
C4721806
Neoplastic Process
The presence of a basal cell carcinoma of the skin.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Palmar pits
MedGen UID:
96101
Concept ID:
C0423776
Finding

Recent clinical studies

Etiology

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
Cardoso JC, Calonje E
Acta Dermatovenerol Alp Pannonica Adriat 2011 Sep;20(3):145-54. PMID: 22131115
Zuo YG, Ma D, Zhang Y, Qiao J, Wang B
J Dermatol Sci 2006 Dec;44(3):153-9. Epub 2006 Sep 27 doi: 10.1016/j.jdermsci.2006.08.013. PMID: 17008061
Ramoz N, Rueda LA, Bouadjar B, Favre M, Orth G
J Invest Dermatol 1999 Mar;112(3):259-63. doi: 10.1046/j.1523-1747.1999.00536.x. PMID: 10084299

Diagnosis

Girijala RL, Nyinawinyange D, Parekh PK, Grimwood RE
Dermatol Online J 2019 Mar 15;25(3) PMID: 30982308
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. PMID: 25073507Free PMC Article
Cardoso JC, Calonje E
Acta Dermatovenerol Alp Pannonica Adriat 2011 Sep;20(3):145-54. PMID: 22131115
Baskan EB, Tunali S, Adim SB, Turan A, Toker S
J Dermatolog Treat 2006;17(3):179-83. doi: 10.1080/09546630600788844. PMID: 16854762

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
Sunohara M, Ozawa T, Morimoto K, Harada T, Ishii M, Fukai K
Osaka City Med J 2012 Dec;58(2):77-82. PMID: 23610850
Yanagi T, Shibaki A, Tsuji-Abe Y, Yokota K, Shimizu H
Clin Exp Dermatol 2006 May;31(3):390-3. doi: 10.1111/j.1365-2230.2006.02100.x. PMID: 16681585
Gubinelli E, Posteraro P, Cocuroccia B, Girolomoni G
J Dermatolog Treat 2003 Sep;14(3):184-8. doi: 10.1080/09546630310009699. PMID: 14522631
Vasily DB, Miller OF, Fudenberg HH, Goust JM, Wilson GB
J Clin Lab Immunol 1984 May;14(1):49-57. PMID: 6086930

Prognosis

Kim C, Hashemi P, Caglia M, Shulman K
J Drugs Dermatol 2016 Mar;15(3):350-2. PMID: 26954321
Kurima K, Yang Y, Sorber K, Griffith AJ
Genomics 2003 Sep;82(3):300-8. doi: 10.1016/s0888-7543(03)00154-x. PMID: 12906855

Clinical prediction guides

Pastrana DV, Peretti A, Welch NL, Borgogna C, Olivero C, Badolato R, Notarangelo LD, Gariglio M, FitzGerald PC, McIntosh CE, Reeves J, Starrett GJ, Bliskovsky V, Velez D, Brownell I, Yarchoan R, Wyvill KM, Uldrick TS, Maldarelli F, Lisco A, Sereti I, Gonzalez CM, Androphy EJ, McBride AA, Van Doorslaer K, Garcia F, Dvoretzky I, Liu JS, Han J, Murphy PM, McDermott DH, Buck CB
mSphere 2018 Dec 12;3(6) doi: 10.1128/mSphereDirect.00645-18. PMID: 30541782Free PMC Article
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. PMID: 19924140
Kurima K, Yang Y, Sorber K, Griffith AJ
Genomics 2003 Sep;82(3):300-8. doi: 10.1016/s0888-7543(03)00154-x. PMID: 12906855
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
Ramoz N, Rueda LA, Bouadjar B, Favre M, Orth G
J Invest Dermatol 1999 Mar;112(3):259-63. doi: 10.1046/j.1523-1747.1999.00536.x. PMID: 10084299

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