Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa causes the skin to be very fragile and to blister easily.
The signs and symptoms of dystrophic epidermolysis bullosa vary widely among individuals affected by the disorder. Severe cases involve widespread blistering that can lead to vision loss, scarring, and other serious medical problems. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. In addition, a rare condition called epidermolysis bullosa with congenital localized absence of skin (also known as Bart syndrome or aplasia cutis congenita type VI) can occur in which individuals have patches of missing skin at birth, typically on the legs.
Dystrophic epidermolysis bullosa (and Bart syndrome) is caused by pathogenic (disease-causing) variants in the COL7A1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Carriers may be at risk for dominant dystrophic epidermolysis bullosa (DDEB). The signs and symptoms of this condition tend to be milder than some who has the recessive form, with blistering often limited to the hands, feet, knees, and elbows. Most affected people have fingernails and toenails that may not form correctly, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.
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Written August 2024
