Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene.

Epidermolysis bullosa (EB) is an inherited skin condition whose hallmark is skin fragility caused by minimal trauma or friction. The dystrophic type of EB (DEB), accounting for 30% of all cases, is caused by mutations in the gene encoding type VII collagen α1 chain (). It is inherited in an autosomal-dominant or autosomal-recessive manner.