Susan J. Robertson, Elizabeth Orrin, Manpreet K. Lakhan, Gavin O’Sullivan, Jessie Felton, Alistair Robson, Danielle T. Greenblatt, Catina Bernardis, John A. McGrath, Anna E. Martinez, Jemima E. Mellerio
DOI: 10.2340/00015555-3875

Epidermolysis bullosa (EB), notably severe recessive dystrophic EB (RDEB-S), is associated with increased risk of aggressive mucocutaneous squamous cell carcinomas, the major cause of mortality in early adulthood. This observational, retrospective case review describes a series of EB patients with cutaneous squamous cell carcinomas over a 28-year period. Forty-four EB patients with squamous cell carcinomas were identified with a total of 221 primary tumours. They comprised: 31 (70%) with RDEB-S, 4 (9%) with other RDEB subtypes, 5 (11.4%) with dominant dystrophic EB, 3 (6.8%) with intermediate junctional EB and 1 (2.3%) with Kindler EB. Squamous cell carcinomas occurred earlier in RDEB-S (median age 29.5 years; age range 13–52 years) than other groups collectively (median age 47.1 years; age range 30–89 years) and most had multiple tumours (mean 5.8; range 1–44). Squamous cell carcinoma-associated mortality was high in RDEB-S (64.5%), with median survival after first squamous cell carcinoma of 2.4 years (range 0.5–12.6 years), significantly lower than previous reports, highlighting the need for early surveillance and better treatments.

This series is the largest reported to date and highlights that individuals with different forms of epidermolysis bullosa are at risk of developing squamous cell carcinomas of the skin. Patients often develop multiple primary tumours that tend to behave aggressively despite wide local excision and have poor response to conventional chemotherapy. The prognosis in severe recessive dystrophic epidermolysis bullosa is worse than previously reported, with median survival from diagnosis of first squamous cell carcinoma of only 2.4 years.

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