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X-Linked Ectodermal Dysplasia

X-linked Ectodermal Dysplasia (XHED) is a disorder causing skin, dental, and immune system problems.

Key Signs

Hair loss, Dental abnormalities, Lack of sweat glands

Age of Onset

At birth

Present at birth

Inheritance

X-linked Recessive

For X-linked recessive disorders, the genetic variant is found on the X chromosome. Female dogs must have two copies of the variant to be at risk of developing the condition, whereas male dogs only need one copy to be at risk. Males and females with any copies of the variant 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 XHED

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 XHED

Signs of XHED include symmetrical hairlessness, missing or misshaped teeth, and lack of sweat glands. Affected dogs lack secondary hair and have no hair on their forehead or pelvis, which is apparent soon after birth. Biopsies of affected areas reveal a complete absence of hair follicles and supportive tissue. Moreover, affected dogs suffer from dental abnormalities, such as missing or misshaped teeth. Other signs of XHED include decreased tear production, chronic discharge from the eyes and nose, and a somewhat compromised immune system. XHED may also predispose affected dogs to generalized Demodex infections due to a weakened immune system.

Therapy is limited to symptomatic treatments for resulting skin infections and general supportive care. There is no cure.

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 disorder is X-linked recessive, meaning the genetic variant is found on the X chromosome. Given males only have one X chromosome, a single affected copy will increase the risk of being diagnosed with the disorder. Females typically require two copies to be at an elevated risk of full clinical signs. Use of dogs with one or two copies of the variant is not recommended for breeding as there is a risk that the resulting litter will contain affected puppies. Please note: It is possible that clinical signs similar to the ones caused by this variant could develop due to a different genetic or clinical cause.

Technical Details

Gene EDA
Variant G>A
Chromosome X
Coordinate 54,511,433

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Casal, M. L., Scheidt, J. L., Rhodes, J. L., Henthorn, P. S., & Werner, P. (2005). Mutation identification in a canine model of X-linked ectodermal dysplasia. Mammalian Genome. View the article

Lewis, J. R., Reiter, A. M., Mauldin, E. A., & Casal, M. L. (2010). Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. Orthodontics and Craniofacial Research. View the article