Peer-reviewed veterinary case report
Chihuahua puppy with inherited skin scaling from ALOXE3 gene variant
By Vinberg, Carina et al.·Published in Animal genetics·2025·VetaDerm Veterinary Clinic·View original on PubMed →
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Original publication title: ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.
- Species:
- dog
Plain-English summary
A 12-week-old Chihuahua was brought in due to severe scaling on its skin, which affected its entire body and legs. The vet found that the dog's skin condition was consistent with a type of inherited disorder called ichthyosis, which causes excessive scaling. Genetic testing revealed a specific mutation in a gene known as ALOXE3, which is important for skin barrier function. Unfortunately, this mutation likely prevents the dog from producing healthy skin lipids, leading to the scaling problem. This case is notable as it's the first report of this genetic variant in a domestic animal.
People also search for: Chihuahua skin scaling treatment · ichthyosis in dogs · dog skin problems ALOXE3 mutation
Abstract
Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic. The clinical features together with histopathological findings in skin biopsies were compatible with non-epidermolytic ichthyosis. To identify a potential genetic cause of the ichthyosis, we sequenced the genome of the affected dog and compared the data to 1567 control genomes. Filtering for private variants identified a homozygous missense variant in ALOXE3, XP_038392720.1:p.(Gly460Asp). ALOXE3 is a known candidate gene for ichthyosis in humans and encodes arachidonate epidermal lipoxygenase 3. The enzyme is involved in the production of a functional corneocyte lipid envelope, an essential component of the epidermal barrier. Pathogenic variants in ALOXE3 have been described in human patients with autosomal recessive congenital ichthyosis. We assume that the identified missense variant in the affected Chihuahua of this study impairs the normal function of the ALOXE3 protein and the formation of a functioning corneocyte lipid envelope, which ultimately leads to a disorder of cornification that manifests as ichthyosis. To the best of our knowledge, this is the first report of a spontaneous ALOXE3 variant in domestic animals.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/41057024/