Epidermolysis bullosa (EB) is a hereditary disorder characterized by fragile skin and mucosae with frequent blistering. A subtype of EB called recessive dystrophic epidermolysis bullosa (RDEB) has been described in the Central Asian Shepherd dog. The clinical signs become apparent shortly after birth and include skin lesions, ulcers and blisters on the paws, ears, muzzle, inside the oral cavity, on the inner side of the ears (inner pinnae), dorsal nasal plane, ventral abdomen, and external genitalia. The affected dogs also showed failure to thrive. There is no cure for EB and most cases result in early euthanasia due to the severity of skin lesions.
Inheritance: autosomal recessive - read more
Mutation: COL7A1 gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.