Peer-reviewed veterinary case report
Shih Tzu with Darier disease skin lesions and ear infection
By Kiener, Sarah et al.·Published in Animal genetics·2023·Institute of Genetics·View original on PubMed →
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Original publication title: Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease.
- Species:
- dog
Plain-English summary
A 5-year-old Shih Tzu developed red, raised bumps on its belly that later spread to its neck and caused a nodule in its ear, leading to an ear infection. After examining the skin and conducting genetic testing, the vet diagnosed the dog with Darier disease, a condition linked to a specific gene mutation that affects skin cell adhesion. The findings suggest that genetic testing can be a helpful tool for diagnosing skin problems in pets. Treatment for the dog included managing the ear infection and monitoring the skin lesions.
People also search for: Shih Tzu skin problems · dog ear infection treatment · Darier disease in dogs
Abstract
Darier disease is caused by heterozygous loss of function variants in the ATP2A2 gene encoding the endoplasmic/sarcoplasmic reticulum Capump ATP2A2. Defective intracellular calcium signaling in the epidermis results in a loss of desmosomal adhesion and the development of characteristic skin lesions. In this study, we investigated a Shih Tzu that developed erythematous papules on the ventrum and, over time, the dorsal neck and a nodule in the right ear canal with secondary ear infection. Histopathologic examination demonstrated discrete foci of acantholysis affecting suprabasal layers of the epidermis. Whole genome sequencing of the affected dog identified a heterozygous missense variant, p.N809H, affecting an evolutionarily conserved amino acid residue of the ATP2A2 protein. The highly characteristic clinical and histopathologic findings together with a plausible variant in the only known functional candidate gene establish the diagnosis of canine Darier disease in the studied dog and highlight the potential of genetic analyses as complementary diagnostic approach in veterinary medicine.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36883421/