Epidermolysis bullosa Associated with Type 1 Diabetes Mellitus - Case Report of a Lethal Disease

Claudia Jurca, Marius Bembea,

Abstract

We present a rare lethal case of a dystrophic form of epidermolysis bullosa (EB) associated with type 1 diabetes mellitus in a 5-year-old boy diagnosed with EB at birth. This association has not been reported before. Two well-known mutations in the collagen COL7A1 gene (compound heterozygous: c.425A>G in exon 3 and c. 2005C>T in exon 15) were determined as cause of EB. Whether the association with diabetes mellitus type 1was causally related remained undetermined. We also discuss the therapeutic difficulties resulting from this association.