Recessive dystrophic epidermolysis bullosa (RDEB) is characterized by skin blistering and scarring with the potential for the development of secondary cutaneous squamous cell carcinomas (SCCs). We report a case of RDEB-associated cutaneous malignant melanoma and SCC that was negative for known human papilloma virus DNA sequences by the polymerase chain reaction.
Report of a Case.
A 22-year-old man with generalized scarring from RDEB underwent amputation of his hand for an SCC measuring 4×5×1 cm (Figure). A simultaneous biopsy of a nodule of the superior helix of the right ear was performed. Histopathologic examination of the ear nodule revealed a 3.2-mm-thick nodular melanoma (Clark's level IV). The tumor stained strongly using monoclonal antibodies with immunoperoxidase for S100 and HMB45 antigens. Despite living in Florida, Colorado, and Texas, the patient reportedly had little sun exposure. There was no family history of cancer. There was no record of a preceding nevus of the
Chorny JA, Shroyer KR, Golitz LE. Malignant Melanoma and a Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa. Arch Dermatol. 1993;129(9):1212. doi:10.1001/archderm.1993.01680300142033