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Congenital Cornification (Discovered in the Labrador Retriever)

Congenital Cornification is a rare X-linked dominant skin disorder. Affected females with one copy of the variant have shown striped, symmetrical thickening of the skin and paw pads, lameness associated with paw pad lesions, and stunted growth. The variant is thought to be lethal in affected males and, possibly, females with two copies. The associated genetic variant has been identified in the Labrador Retriever.

Key Signs

Symmetrical skin lesions, Skin thickening, Skin scaling, Skin infections, Paw pad thickening, Lameness, Stunted growth, Neonatal death in males

Age of Onset

At birth

Present at birth

Inheritance

X-linked Dominant

For X-linked dominant disorders, the genetic variant is found on the X chromosome. Both male and female dogs with one copy of the variant are at risk of developing the condition. Females inheriting two copies of the variant may be at higher risk or show a more severe form of the condition than with one copy. 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 Congenital Cornification

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 Congenital Cornification

Congenital Cornification, also known as inflammatory linear verrucous epidermal nevi (ILVEN), is an X-linked dominant disorder characterized by symmetrical, sharply demarcated alopecia, hyperkeratosis (thickening of the outer layer of skin), brown-black scaling, and dilated, keratin-filled follicles that can appear in stripes over the head, trunk and limbs in a distinct patterning known as Blaschko’s lines. The lesions appear shortly after birth and can be quite painful. Secondary skin infections are common in affected individuals, and paw pad hyperkeratosis can lead to significant lameness. Affected dogs may also show stunted growth. Histological examination can reveal hyperplastic epidermis, hyperkeratosis and parakeratosis while the follicular infundibula may appear distended with parakeratotic keratin. Unfortunately, this disorder is considered lethal in affected males, and death tends to occur in utero or shortly after birth (with mouse models showing abnormally thin placental tissue and fewer blood vessels). Thus, current research describes affected females as having one copy of the X-linked variant. More research is needed to understand the possibility of and effects on females with two copies of this variant.

There is no cure for this disorder. Diagnosis and treatment of secondary skin infections is important. Topical therapy with cholesterol and glycolic acid creams has improved lesions in one documented canine case and is used in human cases of ILVEN. Therapies for hyperkeratosis may include shampoos, emollients, moisturizing sprays and, in some cases, a diet high in fatty acids. Good skin hygiene may help prevent secondary infections, and pain relief may be warranted for some cases.

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 dominant, meaning the genetic variant is found on the X chromosome. However, since it is dominant in nature, males and females only require one copy of the variant to be at an elevated risk for being diagnosed with this condition. Due to the severity of the disorder, use of dogs with one or two copies of the Congenital Cornification (Discovered in the Labrador Retriever) variant are 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 associated with the Congenital Cornification (Discovered in the Labrador Retriever) variant could develop due to a different genetic or clinical cause.

Technical Details

Gene NSDHL
Variant Deletion
Chromosome X
Coordinate Start 120,749,179
Coordinate End 120,763,577

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Bauer, A., De Lucia, M., Jagannathan, V., Mezzalira, G., Casal, M.L., Welle, M.M., Leeb, T. (2017). A large deletion in the NSDHL gene in Labrador Retrievers with a congenital cornification disorder. G3 (Bethesda), 7(9), 3115-3121. View the article