Ichthyosis, NIPAL4-related
Also known as: NIPAL4-related ichthyosis · Autosomal Recessive Congenital Ichthyosis · ARCI · Ichthyose (NIPAL4-Gen) · NIPAL4 Ichthyosis · …
Overview
What it is
This form of ichthyosis is an inherited skin disorder caused by a genetic mutation in the NIPAL4 gene, which impairs the skin's outer protective barrier. Without a properly functioning barrier, the skin cannot regulate moisture or shed dead cells correctly, leading to a buildup of dry, scaly tissue. This disruption in the normal skin-renewal process is known as abnormal keratinization.
How it presents
Owners will typically notice symptoms in young puppies, which present as severe skin scaling, roughness, redness, and frequent itching. Affected dogs are also highly prone to secondary bacterial or yeast skin infections due to the compromised skin barrier.
Treatment
While there is no cure, the condition is manageable with lifelong, daily care including specialized medicated shampoos, rinses, and moisturizing treatments. Managing this chronic condition over a dog's lifetime typically costs between 2,000 and 8,000 EUR.
How it's tested
Ichthyose (NIPAL4) DNA-Test(ICH-NIPAL4)
Primary testDNA testEin DNA-Test zum Nachweis der Mutation im NIPAL4-Gen, die fuer die Verhornungsstoerung der Haut verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Ichthyosis, NIPAL4-related?
This form of ichthyosis is an inherited skin disorder caused by a genetic mutation in the NIPAL4 gene, which impairs the skin's outer protective barrier. Without a properly functioning barrier, the skin cannot regulate moisture or shed dead cells correctly, leading to a buildup of dry, scaly tissue. This disruption in the normal skin-renewal process is known as abnormal keratinization.
How is Ichthyosis, NIPAL4-related tested?
Tests currently in our database: Ichthyose (NIPAL4) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.