epidermodysplasia verruciformis

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Definition: Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer.

Epidermodysplasia verruciformis (EV) results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5 and HPV8.

Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions.

Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas.

Epidermodysplasia verruciformis can be caused by mutations in either of 2 adjacent genes located on 17q25: TMC6 (MIM.605828) or TMC8 (MIM.605829).

The lesions often resemble verrucae planae. The mucous membranes, hair, and nails are not affected. Malignant degeneration, usually of the superficial basal cell type, is frequent.

Characteristic changes in the epidermal cells with peculiar vacuolization are observed. Ellis (1953) stated that this disorder occurs most frequently in Orientals.

References

 Baker, H. Epidermodysplasia verruciformis with electron microscopic demonstration of virus. Proc. Roy. Soc. Med. 61: 589-590, 1968. [PubMed: 5662209]

 Ellis, F. In discussion of Barker and Sachs. Arch. Derm. 67: 443-455, 1953.
Ellis, F. In discussion of Barker and Sachs. Arch. Derm. 67: 443-455, 1953. (Not available in PubMed)

 Feuerman, E. J., Sandbank, M., David, M. Two siblings with epidermodysplasia verruciformis with large clear cells in the epidermis: electron microscope and immunological findings. Acta Derm. Venerol. 59: 513-520, 1979. [PubMed: 94210]

 Hermann, H. Epidermodysplasia verruciformis: Erb-und Erscheinungsbild. Z. Menschl. Vererb. Konstitutionsl. 32: 409-417, 1955. [PubMed: 14397618]

 Jablonska, S., Fabjanska, L., Formas, I. On the viral etiology of epidermodysplasia verruciformis. Dermatologica 132: 369-385, 1966. [PubMed: 5922271]

 Jablonska, S., Formas, I. Weitere positive Ergebnisse mit Auto-und Heteroinokulation bei Epidermodysplasia verruciformis Lewandowsky-Lutz. Dermatologica 118: 86-93, 1959. (Not available in PubMed)

 Jablonska, S., Orth, G., Jarzabek-Chorzelska, M., Glinski, W., Obalek, S., Rzesa, G., Croissant, O., Favre, M. Twenty-one years of follow-up studies of familial epidermodysplasia verruciformis. Dermatologica 158: 309-327, 1979. [PubMed: 220107]

 Lutz, W. Zur Epidermodysplasia verruciformis. Dermatologica 115: 309-314, 1957. [PubMed: 13480104]

 Lutzner, M. A. Nosology among the neoplastic genodermatoses. In: Mulvihill, J. J., Miller, R. W., Fraumeni, J. F., Jr. Genetics of Human Cancer. New York: Raven Press (pub.) 145-167, 1977. (Not available in PubMed)

 Midana, A. Sulla questione dei rapporti tra epidermodysplasia verruciformis e verrucosi generalizzata. Dermatologica 99: 1-23, 1949. [PubMed: 18139272]
 Orth, G., Jablonska, S., Jarzabek-Chorzelska, M., Obalek, S., Rzesa, G., Favre, M., Croissant, O. Characteristics of the lesions and risk of malignant conversion associated with the type of human papillomavirus involved in epidermodysplasia verruciformis. Cancer Res. 39: 1074-1082, 1979. [PubMed: 218721]

 Ramoz, N., Rueda, L.-A., Bouadjar, B., Favre, M., Orth, G. A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. J. Invest. Derm. 112: 259-263, 1999. [PubMed: 10084299]

 Ramoz, N., Rueda, L.-A., Bouadjar, B., Montoya, L.-S., Orth, G., Favre, M. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nature Genet. 32: 579-581, 2002. [PubMed: 12426567]

 Ramoz, N., Taieb, A., Rueda, L.-A., Montoya, L.-S., Bouadjar, B., Favre, M., Orth, G. Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. J. Invest. Derm. 114: 1148-1153, 2000. [PubMed: 10844558]

 Sullivan, M., Ellis, F. A. Epidermodysplasia verruciformis (Lewandowsky and Lutz). Arch. Derm. Syph. 40: 422-432, 1939. (Not available in PubMed)

 Yabe, Y., Sadakane, H. Virus of epidermodysplasia verruciformis: electron microscopic and fluorescent antibody studies. J. Invest. Derm. 65: 324-330, 1975. [PubMed: 808576]