RESUMO
Dystrophic epidermolysis bullosa (EB) is a genetic skin fragility condition with propensity to skin cancer. The severest subtype is the generalized recessive dystrophic EB (RDEB), in which mechanically induced skin blisters and erosions heal with severe scarring. A common and potentially life-threatening complication in RDEB is cutaneous squamous cell carcinoma (SCC). In spite of generally good differentiation of SCC associated with RDEB (RDEB-SCC), the tumours behave in an aggressive manner and metastasize early. Despite the high prevalence of RDEB-SCC, systematic studies on therapeutic options have not been reported. Wide surgical excision is recommended, and unresectable cases have been treated with radiotherapy. Here we report the first treatment of metastasized RDEB-SCC with the epidermal growth factor receptor antagonist cetuximab (Erbitux). The response was favourable, and adverse events were similar to those in patients without EB. Notably, no additional negative cutaneous effects, such as severer skin or mucosal blistering, occurred.