Familial epidermodysplasia verruciformis with intrafamilial phenotypic variability: a case series of three siblings

Abstract

Epidermodysplasia verruciformis is a rare inherited skin disorder characterized by persistent susceptibility to selected beta human papillomavirus types. The disease usually begins in childhood and follows a slow, progressive course, with lesions increasing in number and distribution over time. Clinical severity is variable and often unpredictable, even within the same family, and the risk of later malignant transformation remains a major concern. We describe three siblings from a single family diagnosed with epidermodysplasia verruciformis to demonstrate intrafamilial variability in clinical presentation. All patients underwent detailed clinical evaluation and family history assessment. Histopathological confirmation was obtained in one sibling, while diagnosis in the remaining two was made on the basis of characteristic clinical features in a familial setting. The index patient, a 19-year-old female, developed hypopigmented and hyperpigmented lesions at six years of age, with gradual involvement of the face, trunk, limbs, and external genitalia. Her elder brother had a similar age of onset but more extensive cutaneous involvement. The younger brother presented later, at ten years of age, with fewer lesions largely confined to the limbs. None of the siblings showed clinical evidence of malignant change at evaluation.