Epidermodysplasia verruciformis associated with cutaneous malignancy: a rare inherited genodermatosis in a mother and daughter

Epidermodysplasia verruciformis (EV) is an autosomal recessive genodermatosis marked by a heightened risk of developing non-melanoma skin cancers due to a unique vulnerability to specific HPV genotypes. This susceptibility is often due to mutations in the EVER-1 or EVER-2 genes located on chromosome 17q25. Individuals with EV typically present with plane warts and pityriasis versicolor-like lesions early in life, which may evolve into malignant lesions such as Bowen’s disease, squamous cell carcinoma (SCC), and basal cell carcinoma after decades of sun exposure. EV is predominantly inherited as an autosomal recessive pattern, and several reports of EV occur in siblings. However, autosomal dominant and X-linked patterns have been sporadically recorded. This report details the rare occurrence of EV in a mother and daughter, both of whom developed cutaneous malignancies in sun-exposed areas.

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Journal
International Journal of Research in Dermatology
Published
2025-06-27
DOI
https://doi.org/10.18203/issn.2455-4529.intjresdermatol20252072
Primary Topic
Genetic and rare skin diseases.
Type
article
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article

Epidermodysplasia verruciformis associated with cutaneous malignancy: a rare inherited genodermatosis in a mother and daughter

Irene Thomas, Jayakar Thomas, Ananthakrishnan Ashwin
International Journal of Research in Dermatology
Genetic and rare skin diseases.
article

Epidermodysplasia verruciformis associated with cutaneous malignancy: a rare inherited genodermatosis in a mother and daughter

Irene Thomas, Jayakar Thomas, Ananthakrishnan Ashwin
article en

Abstract

Epidermodysplasia verruciformis (EV) is an autosomal recessive genodermatosis marked by a heightened risk of developing non-melanoma skin cancers due to a unique vulnerability to specific HPV genotypes. This susceptibility is often due to mutations in the EVER-1 or EVER-2 genes located on chromosome 17q25. Individuals with EV typically present with plane warts and pityriasis versicolor-like lesions early in life, which may evolve into malignant lesions such as Bowen’s disease, squamous cell carcinoma (SCC), and basal cell carcinoma after decades of sun exposure. EV is predominantly inherited as an autosomal recessive pattern, and several reports of EV occur in siblings. However, autosomal dominant and X-linked patterns have been sporadically recorded. This report details the rare occurrence of EV in a mother and daughter, both of whom developed cutaneous malignancies in sun-exposed areas.

International Journal of Research in DermatologyVol. 11(4)
Chettinad Health City (IN), Shri Sathya Sai Medical College and Research Institute (IN)
Openalex Percentile: Top 82%
Genetic and rare skin diseases.
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Epidermodysplasia verruciformis associated with cutaneous malignancy: a rare inherited genodermatosis in a mother and daughter — Irene Thomas, Jayakar Thomas, et al. · International Journal of Research in Dermatology (2025) | TGRS Research Map | TGRS