About Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa (DEB) is a devastating rare genetic disease that affects approximately 1 in 250,000 people. Patients with DEB have extremely fragile skin that blisters easily from minor injury leading to deformed limbs and numerous other comorbidities such as increased skin cancer risk.
DEB is caused by a mutation in the COL7A1 gene which normally encodes type VII collagen. Type VII collagen plays an instrumental role in anchoring the uppermost skin layer, the epidermis, to the underlying layer, the dermis. Without functional type VII collagen to strengthen and stabilize the connection between skin layers, minor injury and friction can shear the epidermis from the dermis. When the two skin layers separate, a blister forms that heals by scarring over with fibrous tissue. Fibrosis during the healing process results in the buildup of scar tissue caused by the series of repeated blistering and healing.
DEB is inherited from one or both parents. The most severe form of DEB, called Recessive DEB (RDEB), occurs when a child inherits two copies of mutated COL7A1. With no functional type VII collagen, infants have extremely fragile skin and oral mucosa, which results in severe skin and oral blisters after minor trauma. The buildup of scar tissue in the skin and mucosa causes many complications that are disabling and potentially life-threatening, including strictures in the esophagus (narrowing and closing of the tube that connects the mouth to the stomach), which can exacerbate the poor nutritional status of those affected by DEB, and contraction and fusion of the fingers and toes, which results in pseudosyndactyly (mitten deformity). Pseudosyndactyly and esophageal strictures require painful surgical intervention to remove the excessive scar tissue in order to restore function.
Dominant DEB (DDED) occurs when a patient inherits one mutated copy of COL7A1. Because DDEB patients have one normal copy of the COL7A1 gene, they are able to produce some functional type VII collagen which leads to milder symptoms than patients with RDEB. Blistering in DDEB patients is mostly limited to the hands, elbows, knees, and feet.
There are no FDA approved treatments for patients with DEB. The current standard of care emphasizes early detection and careful monitoring to reduce trauma and minimize scarring. FIBRX Derm is committed to improving the quality of life for patients with DEB by developing decorin as an anti-fibrotic treatment to promote healthy tissue regeneration and prevent scar formation.