This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the “pretibial region”). In some affected people, the feet, hands and/or nails may also be affected. Healing of the blisters is generally associated with hypertrophic scarring. Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
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