Ichthyosis Poodle type / syndromic ichthyosis (DSP-related) - Miniature Poodle

What does this test examine?

This genetic test analyses the DSP c.1821_1823del variant in Miniature Poodle. The disorder is known as syndromic ichthyosis Poodle type / DSP-related ichthyosis, ichthyosis, congenital ichthyosis and an inherited cornification disorder. The name ichthyosis refers to dry, scaly skin that can resemble fish scales.

What does it mean for the dog?

DSP encodes desmoplakin, a protein supporting strong cell junctions in skin and other tissues. The c.1821_1823del deletion removes one amino acid without shifting the reading frame and disrupts skin structure. A disrupted skin barrier can lead to scaling, dry or thickened skin, a dull coat, redness, itching, fissures or secondary skin infections. Severity differs between types and breeds: some forms are mainly chronic and inconvenient, while others cause serious skin disease in young puppies. In the described Miniature Poodle, scaling was accompanied by dry thickened skin, footpad hyperkeratosis, coat abnormalities and dental abnormalities.

Practical value of this test

• Breeders can identify carriers or dogs with a risk genotype before matings are planned.
• The result helps avoid matings that may produce puppies with two copies of a recessive ichthyosis variant, or helps keep dominant variants out of a breeding line.
• In young dogs with scaling, the test quickly clarifies whether the tested inherited form explains the skin problems.
• For owners, the result gives practical context for skin care, follow-up and breeding decisions.

The condition is interpreted as autosomal dominant. One copy of the variant causes the tested DSP-related syndromic ichthyosis.