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GTR Home > Conditions/Phenotypes > Epidermodysplasia verruciformis, susceptibility to, 2

Epidermodysplasia verruciformis, susceptibility to, 2

Synonyms
Epidermodysplasia verruciformis 2

Summary

Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. 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 (summary by Ramoz et al., 2000). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EV2, EVER2, EVIN2, TMC8
    Summary: transmembrane channel like 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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