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Epidermodysplasia verruciformis, susceptibility to, 5(EV5)

MedGen UID:
1648489
Concept ID:
C4749043
Finding
Synonyms: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
 
Gene (location): IL7 (8q21.13)
 
Monarch Initiative: MONDO:0032667
OMIM®: 618309

Definition

Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by Horev et al., 2015). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). [from OMIM]

Clinical features

From HPO
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.
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.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Cryptococcal meningitis
MedGen UID:
88410
Concept ID:
C0085436
Disease or Syndrome
A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
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

Tommasino M
Virus Res 2017 Mar 2;231:128-138. Epub 2016 Nov 14 doi: 10.1016/j.virusres.2016.11.013. PMID: 27856220
Smola S
Adv Exp Med Biol 2014;810:192-207. PMID: 25207367
Orth G
Curr Top Microbiol Immunol 2008;321:59-83. doi: 10.1007/978-3-540-75203-5_3. PMID: 18727487
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

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
Majewski S, Jablonska S
Arch Dermatol 2002 May;138(5):649-54. doi: 10.1001/archderm.138.5.649. PMID: 12020228
Beskow AH, Rönnholm J, Magnusson PK, Gyllensten UB
Hereditas 2001;135(1):61-3. doi: 10.1111/j.1601-5223.2001.00061.x. PMID: 12035615

Therapy

Parietti M, Trunfio M, Delmonte S, Conti L, Trentalange A, Bonora S, Calcagno A, Ribero S
Int J STD AIDS 2022 Jan;33(1):94-96. Epub 2021 Oct 11 doi: 10.1177/09564624211048343. PMID: 34629004
Chen Q, Jiang L, Shi L, Li C, Wu Y, Yang J, Zhang G, Wang X
Photodiagnosis Photodyn Ther 2021 Jun;34:102277. Epub 2021 Apr 2 doi: 10.1016/j.pdpdt.2021.102277. PMID: 33819685
Tommasino M
Virus Res 2017 Mar 2;231:128-138. Epub 2016 Nov 14 doi: 10.1016/j.virusres.2016.11.013. PMID: 27856220
Gül U, Kiliç A, Gönül M, Cakmak SK, Bayis SS
Int J Dermatol 2007 Oct;46(10):1069-72. doi: 10.1111/j.1365-4632.2006.03014.x. PMID: 17910717
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

Prognosis

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
Kim C, Hashemi P, Caglia M, Shulman K
J Drugs Dermatol 2016 Mar;15(3):350-2. PMID: 26954321

Clinical prediction guides

Chen Q, Jiang L, Shi L, Li C, Wu Y, Yang J, Zhang G, Wang X
Photodiagnosis Photodyn Ther 2021 Jun;34:102277. Epub 2021 Apr 2 doi: 10.1016/j.pdpdt.2021.102277. PMID: 33819685
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
Orth G
Curr Top Microbiol Immunol 2008;321:59-83. doi: 10.1007/978-3-540-75203-5_3. PMID: 18727487
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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