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Ichthyosis (American Bulldog Type)

Ichthyosis (ICH) in American Bulldogs is an inherited skin disorder characterized by severe, flaky, and scaly skin manifesting from a young age.

Affected Genes: NIPAL4

Inheritance: Autosomal Recessive

Variant(canFam6):
chr4:52629373: 1 bp deletion G

Breed: American Bulldog
American Bully

General Information: Ichthyosis (ICH) in American Bulldogs, also known as Autosomal Recessive Congenital Ichthyosis (ARCI), presents with distinctive skin abnormalities that become apparent within the first few weeks of a puppy's life. These puppies often appear dirty due to a sticky, yellowish layer of mucus on their skin, making them feel oily to the touch. Within a week, affected puppies may develop pus-like discharges around their eyes and ears, signaling a severe progression of the condition. The disorder can be extremely severe, leading to early euthanasia within the first month due to poor quality of life and significant health challenges, including secondary infections.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Ichthyosis (ICH) in American Bulldogs focuses on the NIPAL4 gene, which has been identified as a key factor in the disease's manifestation within this breed. Ichthyosis is inherited in an autosomal recessive pattern, which means a puppy needs to inherit two copies of the mutated gene, one from each parent, to be affected by the condition. Carriers, which possess one copy of the mutated gene, do not exhibit symptoms but can pass the mutation onto their offspring. Breeding decisions should be informed by reliable genetic testing; each puppy from two carrier parents has a 25% chance of being affected and a 50% chance of being a carrier. To prevent the propagation of this debilitating condition, it is advised against breeding two carriers of the mutation. While a significant percentage of American Bulldogs may carry this mutation, a normal genetic test result does not rule out the potential for other genetic mutations causing similar symptoms, underscoring the necessity for comprehensive testing and careful breeding practices.

References:
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 5(2):112-117.

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 12(1).

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 52(4):654-662.

Mauldin EA. Canine ichthyosis and related disorders of cornification. Vet ClinNorth Am Small Anim Pract. 2013 43(1):89-97.