Ichthyosis or Autosomal Recessive Congenital Ichthyosis (ARCI) is a term used to describe a group of noninflammatory inherited skin disorders characterized by scaly or flaking skin. In American bulldogs, symptoms of Ichthyosis can be severe. Sympoms are seen in puppies as old as 1-2 weeks. Often, a layer of mucus forms on the skin, causing it to become sticky and yellowish in color. Puppies often look dirty and feel sticky or oily. Affected puppies often develop a puss-like substance around their eyes and ears after about 7 days. In severe cases, puppies are generally euthanized within the first four weeks of life.
Testing is available that detects a single mutation in the NIPAL4 gene associated with ichthyosis in American Bulldogs. It is clear that additional causes for ichthyosis exist, so an individual can still develop ichthyosis as a result of an unknown mutation. The exact frequency of the mutation in the American Bulldog population is not clear. A study of approximately 800 American Bulldogs from North America, Australia, and Europe showed that 34.3% of the study sample were found to be carriers of the mutated NIPAL4 gene.
|Affected: Dog has two copies of the Ichthyosis-AB mutation and is likely to develop symptoms of the disorder. The mutation will be passed to every offspring.
|Carrier: Dog has one copy of the Ichthyosis-AB mutation. The dog is not affected by Ichthyosis-AB but may pass the gene to offspring.
|Clear: Dog is negative for the Ichthyosis-AB mutation.
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). [PubMed: 28122049]
Mauldin EA, Wang P, Evans E, Cantner CA, Ferracone JD, Credille KM, Casal ML. Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. Vet Pathol. 2015 Jul;52(4):654-62. [PubMed: 25322746]