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Lethal Acrodermatitis (Discovered in the Bull Terrier)

Lethal acrodermatitis (LAD) is a disease characterized by poor growth, immune system deficiency, skin problems and infections.

Key Signs

Skin lesions, Recurrent skin infections, Dilute coat, Abnormally arched hard palate, Failure to thrive

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 LAD

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 LAD

Puppies with Lethal Acrodermatitis (LAD) show characteristic skin lesions on the feet and on the face, diarrhea, bronchopneumonia, and a failure to thrive. The skin lesions consist of erythema and tightly adherent scales, erosions, or ulcerations with crusts involving primarily the feet, distal limbs, elbows, hocks, and muzzle. Later on, hyperkeratosis of the footpads and deformation of the nails occur. LAD-affected dogs also show a coat color dilution in pigmented skin areas. An abnormally arched hard palate impacted with decayed, malodorous food is a characteristic clinical marker for the disease. LAD-affected dogs are also immunodeficient and frequently suffer from skin infections with Malassezia or Candida.

Topical treatments can be used to help manage the skin conditions. Affected dogs are often euthanized for welfare reasons, due to the severity of the 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 develop. A carrier dog with one copy of the LAD mutation can be safely bred with a clear dog with no copies of the LAD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the LAD 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 LAD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene MKLN1
Variant A>C
Chromosome 14
Coordinate 5,731,405

All coordinates reference CanFam3.1

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References & Credit

Credit to our scientific colleagues:

Bauer, A., Jagannathan, V., Högler, S., Richter, B., McEwan, N. A., Thomas, A., … Leeb, T. (2018). MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genetics, 14(3), 1–14. View the article