Epidermolysis bullosa (EB) is a general term used to describe a group of rare, inherited skin disorders that cause the skin to become very fragile, resulting in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma and are painful. Severity can range from mild to fatal. Those with mild cases may not develop symptoms until they start to crawl or walk. Complications may include esophageal narrowing, squamous cell skin cancer, and the need for amputations.
EB is due to a mutation in at least one of 16 different genes, resulting in a defect in the attachment between or within the layers of the skin.
There are 4 major types of EB:
- kindler syndrome
There is no cure and no drugs on the market targeting specifically this disorder thereby making it a high unmet medical need. EB management involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications.