Description: Ichthyoses constitute a heterogeneous group of genetically conditioned dermatoses characterized by abnormal peeling of the skin throughout the body. The age of onset and severity of disease are highly variable, however, most affected dogs present before one year of age with flaky skin and dull hair. 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 for 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. In addition to a mutation in the PNPLA1 gene (ICT-A disease), a mutation in the ABHD5 gene has been described in Golden Retrievers.
Inheritance: autosomal recessive
Mutation: c.1006_1019del in ABHD5 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Golden retriever
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