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.

Gene name

NIPAL4

Inheritance

Autosomal recessive

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 is early-onset, occurring shortly after birth and worsening 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

, American Bully

Citations

Casal ML, Wang P, Mauldin EA, Lin G, Henthorn PS. A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. PLoS One. 2017 Jan 25;12(1):e0170708. doi: 10.1371/journal.pone.0170708. PMID: 28122049; PMCID: PMC5266318.

Briand A, Cochet-Faivre N, Reyes-Gomez E, Jaraud-Darnault A, Tiret L, Chevallier L. NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. Vet Med Sci. 2019 May;5(2):112-117. doi: 10.1002/vms3.149. Epub 2019 Feb 11. PMID: 30741495; PMCID: PMC6498511.

Disclaimer

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