Dystrophic epidermolysis bullosa (DEB) is a genetic condition that causes fragile, easily blistered skin from minor injuries like scratching. There are two major types of DEB; Hallopeau-Siemens recessive DEB (RDEB-HS) is the most severe. Infants with RDEB-HS are typically born with blisters and/or missing skin from birth-related trauma, which may produce extreme scarring. Blisters in the mouth/throat may result in malnutrition, and severe scarring on other areas of the body may result in loss of finger-/toenails, fusion of fingers/toes, or joint deformities. Non-Hallopeau-Siemens RDEB is the less severe form. It typically only causes blisters on the hands, feet, knees, and elbows, and does not cause as extreme scarring.
Both types of DEB are caused by a mutation (change) in the COL7A1 gene, which is responsible for helping to create a protein important in collagen production. When mutant COL7A1 disrupts collagen production, the layers of the skin easily separate and blister when affected by minor trauma (i.e. scratching or rubbing).
Most symptoms of DEB look similar in the beginning, so genetic testing or examination of family health history is important in diagnosing DEB type. Further diagnosis may include blood and genetic analysis of the affected person and of both parents -- a piece of the affected person’s skin may also be tested. DEB may be diagnosed during early pregnancy if DEB is known to run in the family.
There is no treatment for DEB -- the only option is to manage symptoms. This may include choosing non-irritating clothing, avoiding from contact sports/activities, dressing open blisters, managing pain, maintaining proper nutrition, and participating in physiotherapy to improve range of motion in severe cases.
If you or a family member has been diagnosed with DEB, speak with your doctor about the most current treatment options.
Description Last Updated: Aug 22, 2018