Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study.

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.

Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa.

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.

Surgery of the hand in recessive dystrophic epidermolysis bullosa.

The underlying genetic abnormalities of epidermolysis bullosa (EB) cause destabilization at the dermo-epidermal junction. Patients with EB characteristically are subject to blistering following relatively minor trauma (the Nikolsky sign), and suffer from ulcers and erosions in all areas subject to persistent or repeated friction, such as the hand. Hand deformities occur in most patients with dystrophic EB (DEB), and include adduction contractures of the first web space, pseudosyndactyly, and flexion contractures of the interphalangeal, metacarpophalangeal, and wrist joints. All structures in the hand may be involved. The severity of the deformity worsens with age, and surgical correction becomes increasingly difficult. Recurrent deformity occurs within 2 to 5 years. Meticulous skin care and the use of well-fitted splints supervised within a multidisciplinary team setting are essential. To date there is no strong evidence base on which to plan surgical treatment of the hand in DEB.