Journal of Rare Disorders: Diagnosis & Therapy

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

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.

Author(s):

Claudia Jurca, Marius Bembea, Kinga Kozma, Alfred Klausegger, Ariana Szilagyi and Alexandru Jurca

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