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.
NIPAL4
Autosomal recessive
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.
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.
, American Bully
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.
Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.
Recommended by top vets with decades of experience
21 breeds
64 genetic health markersÂ
50 genetic trait markersÂ