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Dystrophic Epidermolysis Bullosa (Discovered in the Central Asian Ovcharka)

Dystrophic Epidermolysis Bullosa is a skin disorder that causes blistering of the skin and irritations in the oral cavity and upper digestive tract. These disease signs may diminish around 8 months of age.

Key Signs

Blistering of the skin, Lesions in oral cavity and upper digestive tract, Growth retardation

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with Dystrophic Epidermolysis Bullosa

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa (DEB) results in fragile skin caused by the dysfunctional collagen protein. Therefore, areas of high friction such as footpads, groin, and oral cavity tend to exhibit the characteristics blisters. Puppies may be smaller than littermates, likely as a result of eating less due to the discomfort this poses.

Treatment is pain management, supportive care, and symptomatic depending on the severity of the dog's clinical signs.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. A carrier dog with one copy of the Dystrophic Epidermolysis Bullosa mutation can be safely bred with a clear dog with no copies of the Dystrophic Epidermolysis Bullosa mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Dystrophic Epidermolysis Bullosa mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Dystrophic Epidermolysis Bullosa mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene COL7A1
Variant C>T
Chromosome 20
Coordinate 40,532,043

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J. P., … Meneguzzi, G. (2003). Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Human Molecular Genetics, 12(15), 1897–1905. View the article

Palazzi, X., Marchal, T., Chabanne, L., Spadafora, A., Magnol, J. P., & Meneguzzi, G. (2000). Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy [5]. Journal of Investigative Dermatology, 115(1), 135–137. View the article