A 13-year-old girl with recessive dystrophic epidermolysis bullosa presenting with squamous cell carcinoma

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is an uncommon and severely disabling genetic disorder characterized by trauma-induced blisters, intractable skin ulcers, scarring, milia, and nail dystrophy. Patients with RDEB have an increased tendency for fast-growing and early metastasizing squamous cell carcinoma (SCC). We report here a 13-year-old girl with RDEB who developed a large SCC on the left knee. At 6 months of evolution it was resected and covered with an autologous skin graft. To our knowledge, this is the youngest patient with RDEB complicated by SCC to be reported, and therefore may serve to emphasize the importance of vigilance in surveying RDEB patients for SCC.