Disease overview

Ichthyosis is a primary skin condition characterized by flaky, cracked, and scaling skin. This occurs because of improper keratinization of the outermost layer of the skin, called the epidermis, and can lead to other systemic illness. Scales can become progressively darker leading to thick gray or black sections that flake off. Larger, thicker scales can lead to discomfort, though this condition does not present with itchiness. Secondary skin infections and other systemic illness may occur. This form is considered to be mild.

Gene name

PNPLA1

Inheritance

Autosomal recessive

Signs and symptoms

The skin is rough and thick, with greasy flakes that may stick to the hair. There may be thickening of footpads or thickened and pigmented regions of the body. This disease worsens with age. This form is considered to be mild.

How is it diagnosed

Clinical signs are suggestive but other causes may present with similar signs. A skin biopsy is definitive. Genetic testing can determine the underlying genetic cause.

Breeds at higher risk

Citations

Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. PMID: 22246504.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.