Darier Disease and Associated Infundibular Cyst Formation

General Information: Darier Disease is an inherited skin disorder in dogs, characterized by early onset lesions including crusted plaques and nodules, often containing cysts filled with abnormal skin cells, necessitating veterinary assessment and therapeutic excision, while skin biopsies aid in diagnosis and differentiation from other dermatologic conditions, with ongoing monitoring for lesion recurrence due to its potential development over several years.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the ATP2A2 gene identifies carriers of Darier Disease, inherited in an autosomal dominant manner, where one copy of the mutated gene puts dogs at risk of developing the disease. Offspring born to a parent carrying one copy of the mutation have a 50% chance of inheriting the mutation and being at risk. With both parents affected, the likelihood of offspring being affected increases to 75-100%. Ensuring reliable genetic testing is crucial for informed breeding practices, discouraging mating between known carriers to prevent the production of affected puppies, while dogs without the mutation face no increased risk of having affected offspring.