This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth. Additionally, individuals with this condition have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening. Severe generalized recessive dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene and is inherited in an autosomal recessive pattern. There is no cure for this condition and treatment is aimed at preventing blisters from forming and managing symptoms.
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