Ichthyosis in Miniature Poodles

Ichthyosis is a heterogeneous group of genetically determined dermatoses characterized by abnormal skin scaling all over the body. The name ichthyosis comes from the Greek word ichtys, meaning fish, because the scaling skin often resembles fish scales. In Miniature Poodles, clinical signs have an early onset and include generalized scaling of the skin, dry or irregularly thickened areas of skin, hyperkeratosis of the paw pads, and abnormalities in hair and teeth.

The disease is caused by a mutation c.1821_1823del in the DSP gene encoding desmoplakin. Desmoplakin is a sructural protein of cell junctions (desmosomes) and plays a key role in the mechanical strength of tissues. The mutation is inherited in an autosomal dominant manner. This means that one copy of the mutated gene inherited from one parent is sufficient for the symptoms of the disease to manifest.

Genetic testing can clearly reveal the genotype of an animal and is a useful tool for breeders to prevent the unintentional breeding of affected puppies.

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References:

Kiener, S., Lehner, G., Jagannathan, V., Welle, M., Leeb, T. : Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities. Anim Genet 55:725-732, 2024. Pubmed reference: 39136317