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Epidermodysplasia verruciformis, susceptibility to, 4(EV4)

MedGen UID:
1648396
Concept ID:
C4749042
Finding
Synonyms: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4
 
Gene (location): RHOH (4p14)
 
Monarch Initiative: MONDO:0032666
OMIM®: 618307

Definition

Epidermodysplasia verruciformis-4 is an autosomal recessive immunologic disorder characterized by increased susceptibility to certain human papilloma viruses (HPV) that cause warts and skin lesions. Affected individuals present in childhood with disseminated flat warts and psoriatic-like lesions that do not respond to treatment. Immunologic workup shows defects in T-cell development and signaling (summary by Crequer et al., 2012). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). [from OMIM]

Clinical features

From HPO
Burkitt lymphoma
MedGen UID:
2377
Concept ID:
C0006413
Neoplastic Process
Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50% of lymphomas in children but only 1 to 2% of lymphomas in adults (Harris and Horning, 2006). It results from chromosomal translocations that involve the MYC gene (190080) and either the lambda or the kappa light chain immunoglobulin genes (147220, 147200). Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the pathogenetic mechanisms are not clear.
Disseminated cutaneous warts
MedGen UID:
1708110
Concept ID:
C5139200
Neoplastic Process
Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.
Emphysema
MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Stomatitis
MedGen UID:
52511
Concept ID:
C0038362
Disease or Syndrome
Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
Increased proportion of exhausted T cells
MedGen UID:
1620482
Concept ID:
C4531071
Finding
An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.
Facial erythema
MedGen UID:
65986
Concept ID:
C0239488
Finding
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermodysplasia verruciformis, susceptibility to, 4

Recent clinical studies

Etiology

Ewing A, Madan RP
Curr Opin Infect Dis 2024 Aug 1;37(4):227-231. Epub 2024 May 14 doi: 10.1097/QCO.0000000000001021. PMID: 38747352
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
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Mattos MSG, Oliveira WR, Sotto MN
Arch Dermatol Res 2017 Aug;309(6):479-483. Epub 2017 Apr 24 doi: 10.1007/s00403-017-1742-3. PMID: 28439661
Robati RM, Marefat A, Saeedi M, Rahmati-Roodsari M, Asadi-Kani Z
Dermatol Online J 2009 Apr 15;15(4):8. PMID: 19450401

Diagnosis

Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Robati RM, Marefat A, Saeedi M, Rahmati-Roodsari M, Asadi-Kani Z
Dermatol Online J 2009 Apr 15;15(4):8. PMID: 19450401
Gober MD, Rady PL, He Q, Tucker SB, Tyring SK, Gaspari AA
J Invest Dermatol 2007 Apr;127(4):817-20. Epub 2006 Nov 30 doi: 10.1038/sj.jid.5700641. PMID: 17139267

Therapy

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
Sunohara M, Ozawa T, Morimoto K, Harada T, Ishii M, Fukai K
Osaka City Med J 2012 Dec;58(2):77-82. PMID: 23610850
Shayanfar N, Babaheidarian P, Rahmani H, Azadmanesh K, Sohrabi A, Mohammadpour M, Mirzaie AZ, Parvaneh N
Acta Dermatovenerol Croat 2012;20(4):267-71. PMID: 23317490
Arnold AW, Hofbauer GF
Curr Probl Dermatol 2012;43:49-56. Epub 2012 Feb 17 doi: 10.1159/000335151. PMID: 22377919
Androphy EJ, Dvoretzky I, Maluish AE, Wallace HJ, Lowy DR
J Am Acad Dermatol 1984 Aug;11(2 Pt 1):197-202. doi: 10.1016/s0190-9622(84)70149-6. PMID: 6384282

Clinical prediction guides

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
Barcelos AC, Sotto MN
J Cutan Pathol 2009 Jun;36(6):647-54. doi: 10.1111/j.1600-0560.2008.01127.x. PMID: 19515043

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