Darier Disease and Associated Infundibular Cyst Formation

Other Names: Canine Darier Disease, Darier-White disease, keratosis follicularis
Affected Genes: ATP2A2
Inheritance: Autosomal Dominant
Mutation: chr26:8434020-8434021 (canFam4): 205 bp ins + 15 bp flanking dup(CTCATGTTCCTTTTC)
Breed(s): Irish Terrier

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Common Symptoms

Darier Disease is an inherited skin disorder affecting dogs. Affected dogs typically present with skin lesions prior to six months of age. These lesions may include multiple crusted plaques within the ears and/or overlying skin nodules disseminated around the body. These lesions override cysts filled with abnormal skin cells. Treatment includes veterinary assessment of the presenting lesions, managing secondary infections and therapeutic excision of the cysts. Skin biopsies should be taken to assist in diagnosis and distinguish the presentation of Darier Disease from other dermatologic disorders. Dogs with Darier Disease should be monitored for recurrence as lesions may develop over several years.

Testing Tips

Genetic testing of the ATP2A2 gene will reliably determine whether a dog is a genetic Carrier of Darier Disease. Darier Disease is inherited an Autosomal Dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at risk of developing the disease. Each pup that is born to a parent carrying one copy of the Mutation has a 50% chance of inheriting one copy of the ATP2A2 gene mutation and being at-risk for the disease. If both parents are affected, the chance of having affected offspring increases to 75-100%. 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 is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups due to this mutation.

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.

References

  • Linek M, Doelle M, Leeb T, Bauer A, Leuthard F, Henkel J, Bannasch D, Jagannathan V, Welle MM. ATP2A2 SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation. Genes (Basel). 2020 Apr 28;11(5):481. [PubMed: 32354065]