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Epidermolysis bullosa (EB) is a group of genetic disorders characterized by blisters and erosions/ulcerations in response to otherwise benign mechanical forces applied to the skin. Pretibial epidermolysis bullosa (PEB) is a form of EB that most often presents with blistering, ulceration, scarring, and milia localized to the bilateral legs. We report a case of man in his 50s presenting with blistering and scarring of his bilateral legs caused by PEB found to be associated with a mutation in COL7A1 that results in exon skipping.

Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen