Ichthyosis, SLC27A4-related
Also known as: SLC27A4-related ichthyosis · Great Dane Ichthyosis · Ichthyose der Deutschen Dogge · Congenital follicular ichthyosis · Congenital Ichthyosis · …
Overview
What it is
This is a severe, inherited skin disorder caused by a genetic mutation that disrupts how the skin transports lipids (fats) and maintains its natural protective barrier. Without proper lipid transport, the skin undergoes abnormal keratinization, which is a process where the outer layer of skin cells becomes excessively thick, dry, and scaly. This leads to a non-epidermolytic, lamellar-type ichthyosis where the skin cannot retain moisture or protect itself normally.
How it presents
Symptoms typically appear during puppyhood as thick, rough, grey or dark scales on the skin, often accompanied by hair loss. Affected dogs also frequently experience itching and recurring skin infections due to the compromised skin barrier.
Treatment
This condition is incurable and requires lifelong, daily management with specialized shampoos, topical lotions, and dietary supplements to manage the scaling. This ongoing supportive care typically costs between 150 and 1000 EUR per year depending on the dog's size and needs.
How it's tested
SLC27A4-Ichthyose DNA-Test(ICH-SLC27A4)
Primary testDNA testEin molekularbiologischer Gentest zum Nachweis der ursächlichen Mutation im SLC27A4-Gen, die für diese Form der Ichthyose (z. B. bei der Deutschen Dogge) 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, SLC27A4-related?
This is a severe, inherited skin disorder caused by a genetic mutation that disrupts how the skin transports lipids (fats) and maintains its natural protective barrier. Without proper lipid transport, the skin undergoes abnormal keratinization, which is a process where the outer layer of skin cells becomes excessively thick, dry, and scaly. This leads to a non-epidermolytic, lamellar-type ichthyosis where the skin cannot retain moisture or protect itself normally.
How is Ichthyosis, SLC27A4-related tested?
Tests currently in our database: SLC27A4-Ichthyose DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.