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Darier Disease and Associated Infundibular Cyst Formation

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Test Overview:

Darier disease affects dogs and is an inherited skin disorder. Dogs who have this disorder will usually have skin lesions before 6 months of age. The lesions can include overlying skin nodules disseminated around their body and/ or have multiple crusted plaques in their ears. The lesions override the cysts filled with abnormal skin cells. Treatment for this disorder include veterinary assessment of the lesions, managing secondary infection and the therapeutic removal of the cysts. Furthermore, skin biopsies should generally be taken to help with diagnosis of Darier Disease (from the other dermatologic disorders). Dogs who have Darier Disease should be monitored for recurrence as the lesions can develop over many years.

Category:

Dermatologic - Associated with the skin

Gene:

ATP2A2

Variant Detected:

chr26:8434020-8434021 (canFam4): 205 bp ins + 15 bp flanking dup(CTCATGTTCCTTTTC)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Dominant

Recommended Screening:

Genetic testing of the ATP2A2 gene will reliably determine if a dog is a genetic carrier of Darier Disease. Surgical removal of cystic nodules or repeated diode laser ablation depending on the nature of lesions.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/32354065/ 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]

Associated Breed(s):

Irish Terrier, Mixed Breed,

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