Recessive Dystrophic Epidermolysis Bullosa

Body function:

Skin

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Recessive dystrophic epidermolysis bullosa is a genetic disease caused by a mutation in the COL7A1 gene. It affects the production of collagen type VII and creates severe skin blistering. This condition is inherited in the autosomal recessive fashion, so both parents must be carriers for a dog to risk developing the condition.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Golden Retriever

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What does this mean for a dog with this trait?

There is no known treatment for recessive dystrophic epidermolysis bullosa, but symptoms can be managed with medications like steroids. Associated infections may also be treated with antibiotics.

Symptoms

Symptoms of recessive dystrophic epidermolysis bullosa include extremely fragile skin that easily blisters from any abrasion of trauma. Skin is also prone to ulcers and scarring. Areas that are most affected include face, foot pads, groin, ears, mouth, and esophagus. Dogs with the condition are also prone to infection. While blistering stops in the first year, ulcer and esophageal ulcers are lifelong.

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