Ichthyosis (ARCI dog)Ichthyosis (Autosomal Recessive Congenital Ichthyosis – ARCI) denotes a Cornification disorder of the skin. Affected dogs show strong scaling and keratinization, wrinkled skin and severe itching.
The disease occurs in the American Buldogg Before. It is inherited autosomal recessively.
Symptoms
– Severe scaling, keratinization – Wrinkled skin – Unpleasant sweet odor – Puppies appear unkempt and dirty – Itching – Secondary infections, hot spots
General information
Ichthyosis (Autosomal-recessive congenital ichthyosis – ARCI) denotes a Cornification disorder of the skin. – Depending on the severity and relapses, the quality of life of the dogs is slightly to severely limited. – Of 800 American Bulldogs tested, 34% were identified as clinically healthy carriers.
Affected breeds
American Bulldog
Involved gene | DNA test
This mutation test shows the deletion of a single base pair ( c.744delC ) in exon 6 of the NIPAL4 gene.
→ The disease only occurs when 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. The dog does not have any predispositions for ARCI. Can therefore not pass them on to the descendants.
N/ arci = One carrier
arci / arci = affected
The variation is 100% passed on to the offspring.
Recommendations for breeding
– carrier animals can be mated with normal animals (N/arci x N/N). Before offspring are used in breeding, they should be tested to determine if 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.