Ichthyosis-AB, Autosomal recessive congenital ichthyosis, Nonepidermolytic ichthyosis, ARCI
Ichthyosis American Bulldog Type (ICT-ABD) is an inherited skin condition that affects the American Bulldog breed. Symptoms of the disease can present as early as a few weeks of age and consist of hairless reddened skin on the underside that can develop into flaky wrinkly skin and a scruffy haircoat. Affected dogs can also exhibit thickened or cracked footpads and are at increased risk for skin infections that may require treatment throughout their lives. Symptoms typically continue and can potentially worsen as the affected dog ages. Supportive treatment can include medicated shampoos, medicated skin moisturizers, and a diet supplemented with fatty acids.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Ichthyosis American Bulldog Type nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have two copies of the mutation associated with this disease and are likely to develop Ichthyosis American Bulldog Type.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with BFJE which can result in seizures and potential ataxia.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
NIPAL4
Chromosome
Ch. 4
Mutation
c.744delC
Publication:
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]
