Treatment with immunotherapy and other systemic therapies for patients with recessive dystrophic epidermolysis bullosa and cutaneous squamous cell carcinoma. A single institution experience.
Abstract Purpose. Cutaneous squamous cell carcinoma (CSCC) is a frequent complication in patients with recessive dystrophic epidermolysis bullosa (RDEB). Immunotherapy is a novel treatment approach for CSCC, however there is little experience in patients with RDEB. Methods. We included all the patients with a molecular-confirmed diagnosis of RDEB and advanced CSCC treated with systemic therapy between November 1988 and January 2021. Results. Five patients were treated with immunotherapy (n = 2), other systemic therapies (n = 2), or both (n = 1). The tolerability of immunotherapy was overall acceptable with no treatment-related serious adverse events. Radiological tumor response observed in one patient. The other patients were treated with a combination of chemotherapy and targeted therapy (EGFR inhibitors), with mixed tumor response. Median OS was 3 months (range, 1 to 11). Conclusions: Patients with RDEB and advanced CSCC benefit from immunotherapy and do not experience unexpected toxicity.