Dystrophic epidermolysis bullosa is an inherited disorder affecting the skin andcausing it to break down.
Symptoms include the skin being fragile and blistering easily. Blistersand 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 andexhibits autosomal recessive inheritance. This means that both parents must be carriers to havea 25% chance to have a child with the condition. The risk of being a carrier is based on aperson’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.