SummaryThis article summarizes recommendations reached following a systematic literature review and expert consensus on the diagnosis and management of cutaneous squamous cell carcinomas in people with epidermolysis bullosa. The guidelines are intended to help inform decision making by clinicians dealing with this complex complication of a devastating disease.What's already known about this topic?• Some subtypes of epidermolysis bullosa (EB), particularly severe generalized recessive dystrophic EB, are associated with the development of mucocutaneous squamous cell carcinomas (SCCs).• These tumours behave aggressively and are a leading cause of morbidity and mortality in at-risk patients with EB.What does this study add?• These guidelines will assist clinicians in the diagnosis, management and staging of EB-associated cutaneous SCCs based on available evidence and expert consensus.• They highlight the importance of a holistic multidisciplinary approach to the management of EB-associated SCCs, where patient involvement in decision making is paramount.

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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.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.

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What is already known about this topic? Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and altered function. Surgery is needed to release contractures and web spaces and hand therapy is essential to maintain results, approaches for both differ. What does this study add? These guidelines aim to provide information on the surgical and conservative therapeutic hand management of children and adults diagnosed with EB. They are based on available evidence and expert consensus to assist hand surgeons and therapists in decision making, planning and treatment. They highlight the importance of a holistic multidisciplinary team (MDT) approach, where patient priorities are paramount.