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Ichthyosis A (Golden Retriever)

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Test Overview:

A group of genodermatoses characterized by abnormal desquamation over the whole body. Ichthyosis is a condition of the skin, where the skin becomes thickened and covered in scale.  It is an inherited condition, and the genetic mutation responsible for the disease has been characterised in several breeds.  It is thought that the defect relates to the metabolism of lipids within the epidermis (outer layer of the skin).  Signs associated with ichthyosis can start from a very young age in some breeds, with hairless skin on the underside becoming reddened and then developing a brown scale and a wrinkly appearance.  By the time the dog reaches adulthood the underside of the dog is covered in brown scale, with white-to-tan scales visible in haired areas.  The feet may occasionally be affected with thickening and cracking of the footpads. The main complication from this condition is that the skin's defensive barrier function is impaired, and cracking allows organisms to penetrate the skin, leading to infections.  Yeast overgrowth is the most common complication, leading to severe itching and irritation and also conditions such as otitis externa, intertrigo (infection in the skin folds) and pododermatitis (infection of the feet).  The condition can also be quite distressing for the owner due to the appearance of their dog and the irritation it causes, although the disease itself is not life-threatening.

Category:

Dermatologic - Associated with the skin

Gene:

Patatin like phospholipase domain containing 1 (PNPLA1) on Chromosome 12

Variant Detected:

Nucleotide Insertion and Nucleotide Deletion c.1445-1447delACC and c.1447insTACTACTA p.Asn482Ilefs9X

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 Recessive

Research Citation(s):

Grall, A. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (2012) Nat Genet, 44(2);140-147.

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle, Mixed Breed,

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