Dystrophic epidermolysis bullosa is an inherited disorder affecting the skin and causing it to break down.
Symptoms include the skin being fragile and blistering easily. Blisters and skin erosions are common. The affected individual may also have areas of missing skin.
This condition 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 to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Carriers may experience milder symptoms of the condition, including blistering limited to the hands, feet, knees, and elbows or having isolated malformed fingernails and toenails. If you are found to be a carrier, a genetic counselor can talk to you in more detail about this risk and what it means.
Resources
Dystrophic Epidermolysis Bullosa Research Association of America
Revised August 2022
