Exfoliative Cutaneous Lupus Erythematosus (ECLE)

Affected Genes: UNC93B1
Inheritance: Autosomal Recessive
Mutation: chr18:50337804 (canFam4): C/A
Breed(s): German Shorthaired Pointer, Vizsla

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Common Symptoms

Exfoliative Cutaneous Lupus Erythematosus is an inherited skin disease affecting dogs. Affected dogs typically present within a year of age with crusty, reddened lesions on the ears, muzzle, and back. Lesions progress to the legs, chest, and abdomen. Dogs develop scarring and hair loss in affected areas and may have swollen lymph nodes. Affected dogs can develop painful, swollen joints in the late stages of disease and may walk with a stiff hunched gait. Treatment is not usually effective, and affected dogs are often humanely euthanized due to disease severity.

Testing Tips

Genetic testing of the UNC93B1 gene will reliably determine whether a dog is a genetic Carrier of Exfoliative Cutaneous Lupus Erythematosus. This disease 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 UNC93B1 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.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


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