Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis

Fig 1. Squamous cell carcinoma identified after multiple biopsy specimens of poorly healing area over left E pidermolysis bullosa (EB) consists of a heterogeneous group of autosomal dominant or recessive disorders, characterized by epithelial fragility. In dystrophic EB, patients have a genetic defect in the gene encoding collagen VII, COL7A1. Generalized severe recessive dystrophic EB (RDEB) is characterized by large, flaccid bullae present at birth with healing atrophic scars. RDEB is associated with a high mortality and morbidity. Although no definitive therapy exists, recent advances in medical care have significantly increased the survival of RDEB. This has exposed complications not previously observed, including secondary amyloidosis, which can have fatal outcomes. Secondary amyloidosis, a rare complication, has been scarcely reported in the literature to date, usually solely affecting renal function. We report a case of RDEB with amyloidosis, causing liver hypertrophy and caput medusa. malleolus.