AUTOSOMAL RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA (DEB-AR) AND SQUAMOUS CELL CARCINOMA (SCC)
Abstract:
Introduction: Congenital epidermolysis bullosae is a genodermatosis characterized by the
appearance of bullae and ulcers after minor trauma due to defect of collagen VII. Autosomal recessive
dystrophic epidermolysis bullosa (DEB) is the most severe and is associated with increased risk of
aggressive squamous cell carcinoma (SCC). Case report: We report a case of a 17 year-old patient,
diagnosed with DEB since the age of 3, with sporadic presentation to dermatologist, who developed
several months ago ulcers on the lips, mainly on the lower one. There was raised the suspicion of lip
SCC due to increased incidence of SCC among these patients, clinical aspect and long evolution, but the
diagnosis was excluded after lip biopsy. Conclusions: DEB is a condition with severe psychosocial
impact because of evolution and complications, and by associating aggressive skin carcinomas with a
poor prognosis. Strict monitoring of these patients is required for early detection of the neoplastic
processes and rapid initiation of specific therapy.
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