Collagen is an essential component of human skin and connective tissues. More than two-dozen types of collagen exist in the body, each one playing its own distinct and important role. Collagen type VII functions as nature’s Velcro, forming anchoring fibrils that secure the skin’s protective outer layer, the epidermis, to the thick under-layer known as the dermis. Mutations in the gene that encodes collagen type VII can disrupt its ability to anchor the epidermis, resulting in a genetic disease called Dystrophic Epidermolysis Bullosa (DEB). DEB is characterized clinically by blister formation from mechanical trauma, frequently on the skin, but in severe forms, blisters can form throughout the body including in the mouth, on the external surface of the eye and on tissue lining the respiratory, gastrointestinal and genitourinary tracts. In some forms of the disease, disfiguring scars and disabling musculoskeletal deformities occur.

Two forms of the disease exist, based on how it is inherited. In the United States, the recessive form of DEB has a prevalence of between 3.5 and 20.4 affected patients per million people.

Recessive dystrophic epidermolysis bullosa or RDEB is a severe form of EB and, in addition to the blistering seen with other forms of the disease, manifests systemically with symptoms including malnutrition, anemia, esophageal strictures, growth retardation, corneal abrasions and fusion of the fingers and toes.

There is no cure for RDEB, and management of the disorder is complex, with treatment goals focused on managing blisters, controlling infection and the prevention of complications.