Publication:

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.