Definition

A rare, inherited disorder in which blisters form on the skin and the moist inner lining of some organs and body cavities. The blisters usually appear at birth and may occur on certain parts of the body (such as the hands, feet, elbows, and knees) or all over the body (including the mouth, esophagus, and other parts of the gastrointestinal tract, the eyes, and the genitourinary tract). This can lead to scarring in the affected areas and thinning of the skin. Other signs and symptoms include small white bumps on the skin; deformities in the fingers, toes, nails, teeth, and joints; trouble chewing and swallowing; vision loss and other eye problems; anemia; slow growth; and poor nutrition. Some people with dystrophic epidermolysis bullosa have a very high risk of developing squamous cell skin cancer at an early age. There are several types of dystrophic epidermolysis bullosa. It is caused by a mutation (change) in the COL7A1 gene. Also called DEB.