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). The disease can also affect the lining of the mouth, esophagus, eye, anus and vagina.
Two forms of the disease exist, based on how it is inherited. In the United States, the recessive and dominant forms of DEB each have a prevalence of one affected patient per million people. There is currently no cure or effective treatment available to patients.