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 gray or black thick sections that flake off. Larger, thicker scales can lead to discomfort, though this condition does not present with itchiness.

Gene name

ASPRV1

Inheritance

Autosomal dominant

Signs and symptoms

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

How is it diagnosed

Clinical signs are suggestive, as other conditions may present with similar signs as ichthyosis. A skin biopsy can provide a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Bauer A, Waluk DP, Galichet A, Timm K, Jagannathan V, Sayar BS, Wiener DJ, Dietschi E, Müller EJ, Roosje P, Welle MM, Leeb T. A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet. 2017 Mar 1;13(3):e1006651. doi: 10.1371/journal.pgen.1006651. PMID: 28249031; PMCID: PMC5352138.

Disclaimer

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