Ichthyosis (ARCI Dog)

Ichthyosis (autosomal recessive congenital ichthyosis - ARCI) describes a cornification disorder of the skin. Affected dogs show severe scaling and cornification, wrinkled skin and intense itching.

The disease occurs in the American Bulldog. The inheritance is autosomal recessive.

Symptoms

Severe scaling, cornification
Wrinkled skin
Unpleasantly sweetish odour
Puppies appear unkempt and dirty
Itching
Secondary infections, hot spots

General Information

Ichthyosis (autosomal recessive congenital ichthyosis - ARCI) describes a cornification disorder of the skin.
Depending on the severity and the flare-ups, the quality of life of the dogs is slightly to severely reduced.
Of 800 American Bulldogs tested, 34% were identified as clinically healthy carriers.

Breeds affected

American Bulldog

Test Information

This mutation test detects the deletion of a single base pair (c.744delC) in exon 6 of the NIPAL4 gene.

Genotype and Lab Report

Inheritance: autosomal recessive

→ The disease only occurs if both alleles of the gene are affected by the mutation (arci/arci). Dogs that have only one allele with the causative mutation (N/arci) are clinically healthy carriers.

Genotypes:

N/N = genetically normal

The dog has no predisposition for ARCI and therefore cannot pass it on to its offspring.

N/arci = a carrier

The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.

arci/arci = affected

The variation is passed on 100% to the offspring.

Recommendations

Carrier animals can be bred to normal animals (N/arci x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
Mating two carrier animals (N/arci x N/arci) should be avoided because there is a 25% chance that the offspring will be affected.
Affected animals (arci/arci) should be excluded from breeding.

Literature

Casal, M.L., Wang, P., Mauldin, E.A., Lin, G., Henthorn, P.S.: A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.PLoS One 12:e0170708, 2017. Pubmed reference: 28122049. DOI: 10.1371/journal.pone.0170708.

Mauldin, E.A., Wang, P., Evans, E., Cantner, C.A., Ferracone, J.D., Credille, K.M., Casal, M.L.: Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.Vet Pathol 52:654-62, 2015. Pubmed reference: 25322746. DOI: 10.1177/0300985814551425.

Further information is available at: Online Mendelian Inheritance in Animals.