Description:  Ichthyoses constitute a heterogeneous group of genetically conditioned dermatoses characterized by abnormal peeling of the skin throughout the body. The name ichthyosis comes from the Greek word ichthys (fish) because flaking skin resembles fish scales. Dogs with ichthyosis will begin to form white scales on the skin soon after birth. Scales can persist for a lifetime, sometimes manifestations subside. Scales can become black and rough over time. They usually do not cause pruritus. Secondary can cause infections, e.g. bacterial, fungal or parasitic. No specific and effective treatment of ichthyosis is currently available. The main focus of the treatment is to increase hygiene measures such as frequent brushing, skin softening at weekly intervals and a diet enriched with fatty acids.

The genetic causes of some forms remain unknown. Lamellar form of ichthyosis has been described in golden retrievers. All sick golden retrievers have been found to have an insertion-deletion mutation in the 8. exon of the PNPLA1 gene (patatin-like phospholipase domain-containing protein 1), which leads to the generation of a premature stop codon (Grall et al. 2012). Indel consists of a 3 bp deletion and a subsequent 8 bp insertion, which essentially results in a 5 bp insertion. As a result of the insertion of 5 bp, the reading frame is shifted and a premature stop codon is formed and thus 74 amino acids are lost from the highly conserved C-terminal end of the PNPLA1 protein.


Inheritance: autosomal recessive


Mutation: Indel in exon 8 in PNPLA1 gene


Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.


The analysis is suitable for the following breeds: Golden retriever, Goldendoodle