Ichthyosis (Discovered in the Golden Retriever)
Ichthyosis is a skin disorder causing large, loose, white to grey colored scaling of the skin.
Key Signs
Scaling of the skin
Age of Onset
At birth
Present at birth
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 Ichthyosis
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 Ichthyosis
The primary clinical sign of Ichthyosis is large loose scales on the skin ranging in color from light to black. This is due to the outer layer of the skin being formed abnormally, which causes scaling throughout the dog’s life. While the condition does not typically cause itching, affected dogs are more prone to secondary pyoderma and as a result may show pruritus. The onset of the disorder, as well as the severity of the clinical signs, varies but signs may already be present at 8 weeks of age. Initially the scaling will appear white in color and may progress to black over time. The disorder is considered mainly cosmetic and does not significantly alter the dog's quality of life.
There is no curative treatment for the condition. Therapies may include certain shampoos, emollients, moisturizing sprays and, for some, a diet high in fatty acids. Good skin hygiene is important for preventing secondary infections.
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 Ichthyosis mutation can be safely bred with a clear dog with no copies of the Ichthyosis mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Ichthyosis mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Please note: It is possible that disease signs similar to the ones caused by the Ichthyosis mutation could develop due to a different genetic or clinical cause.
Technical Details
| Gene | PNPLA1 |
|---|---|
| Variant | C>A |
| Chromosome | 12 |
| Coordinate Start | 5,417,388 |
| Coordinate End | 5,417,390 |
All coordinates reference CanFam3.1
We’ve spent the past 20+ years devoted to DNA. Our team of scientists and vets have spent decades developing the most accurate pet DNA test. Because every pet deserves to have their whole story told. We’ve collaborated with leading academic institutions, innovative research labs, and Banfield Pet Hospital™ to make our process exceptionally precise, fast, and affordable.
References & Credit
Credit to our scientific colleagues:
Grall, A., Guaguère, E., Planchais, S., Grond, S., Bourrat, E., Hausser, I., … Fischer, J. (2012). PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nature Genetics, 44(2), 140–147. View the article