A rare paediatric case with overlapping clinical features of epidermodysplasia verruciformis and pyoderma gangrenosum with hepatosplenomegaly.

Abstract

Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis that typically manifests as painful ulcers, usually on the lower limbs, and is usually secondary to other conditions, for example inflammatory bowel disease and rheumatoid arthritis. Epidermodysplasia verruciformis (EDV) is an inherited or acquired primary immunodeficiency disorder linked to human papillomavirus susceptibility and an increased risk of squamous cell carcinoma. Occurrence of these conditions together has not been reported before. A 10-year-old boy presented with an extraordinary combination of clinical features consistent with PG and EDV. This unique presentation showcased recurrent nonhealing painful ulcers on the legs and body along with cribriform scarring for the last 8 years, which worsened over the last 1 year. Punch biopsy corroborated the diagnosis of PG. There were no signs and symptoms of other systemic diseases. Hypo- and hyperpigmented papules were spread all over the body with pityriasis versicolor-like macules on the forehead, neck and dorsa of the hands along with a positive family history in his younger brother, confirming the diagnosis of inherited EDV. The patient also had hepatosplenomegaly, for which paediatric workup was suggested. Treatment involved infection control, corticosteroid therapy and wound care, which led to a rapid healing response in the ulcers. This exceptional case sparks the suspicion of a novel syndrome due to its combination of EDV and PG, enhancing existing knowledge of the disease presentation.