Other names: DEB

Dystrophic epidermolysis bullosa (DEB) is a rare genetic disease that affects the skin and mucosal tissues.

Dystrophic epidermolysis bullosa is caused by one or more mutations in the COL7A1 gene, resulting in the lack of production of functional type VII collagen (COL7) protein. The COL7 protein forms anchoring fibrils necessary to bind the dermis (inner layer of the skin) to the epidermis (outer layer of the skin). When there are no anchoring fibrils, the skin becomes extremely fragile, with minor friction or trauma causing blisters and tears. Areas of the body primarily affected include the hands, feet, knees, and elbows.

Symptoms of dystrophic epidermolysis bullosa include open wounds, which lead to recurrent skin infections and fibrosis that can cause fusion of fingers and toes, and an increased risk of developing an aggressive form of skin cancer.

Vyjuvek (beremagene geperpavec-svdt) is a topical gene treatment used for the treatment of dystrophic epidermolysis bullosa. It works to treat DEB by restoring functional copies of the COL7A1 gene to express COL7, and reassemble the anchoring fibrils that bind the dermis to the epidermis.

Drugs used to treat Dystrophic Epidermolysis Bullosa