Dystrophic Epidermolysis Bullosa

Other Names: Recessive dystrophic epidermolysis bullosa, DEB, EB, RDEB
Affected Genes: COL7A1
Inheritance: Autosomal Recessive
Mutation: Point Mutation
Breed(s): Golden Retriever, Goldendoodle*
*Disease found in parent breed(s)

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Common Symptoms

Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disease affecting dogs. Clinical signs of DEB are present at birth. Affected dogs have fragile skin that is easily damaged from rubbing or trauma resulting in blisters, ulcers and scarring of the skin. Areas that are most prone to blisters are the face, foot pads, genital areas and ears. In addition, affected dogs will develop blisters and ulcers inside the mouth and in the esophagus. Ulcerations of the skin and mucous membranes are painful and can become infected. Blistering of the skin tends to cease at around 8 months of age however, ulcers of the mouth and esophagus persist into adulthood. Dogs with DEB are often smaller than littermates, likely due to difficulties eating.


Testing Tips

Genetic testing of the COL7A1 gene will reliably determine whether a dog is a genetic Carrier of dystrophic epidermolysis bullosa. Dystrophic epidermolysis bullosa is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the COL7A1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.


References

  • Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP, Bruckner-Tuderman L, Meneguzzi G. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet. 2003 Aug 1; 12(15):1897-905. [PubMed: 12874109]
  • Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epidermolysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol. 2011 Oct; 131(10):2069-78. [PubMed: 21697889]
  • Palazzi X, Marchal T, Chabanne L, Spadafora A, Magnol JP, Meneguzzi G. Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy. J Invest Dermatol. 2000 Jul; 115(1):135-7. [PubMed: 10886525]