EB is a rare group of hereditary, life-threatening connective tissue diseases that are characterized by blisters on the skin and severely affecting internal organs. There are many genetic variants of EB, and the common symptoms are fragile skin, blistering and tearing. It is estimated that EB affects one in 20,000 newborns in the United States and affects approximately 500,000 patients.
EB is usually painful and debilitating. Itching, pain, and scarring can significantly reduce a patient’s quality of life, while persistent skin inflammation and infection are associated with tumor incidence and premature death. There is currently no approved treatment for the disease, and standard care is supportive care, such as pain and wound management, to prevent infection and maintain wound healing.