Peer-reviewed veterinary case report
Cat with blistering skin disease linked to KRT14 gene variant
By Dettwiler, M et al.·Published in Animal genetics·2020·Institute of Animal Pathology·View original on PubMed →
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Original publication title: A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex.
- Species:
- cat
Plain-English summary
An 11-month-old male domestic shorthair cat was brought in with sloughed paw pads and painful sores in his mouth and ears, which started a few weeks after birth. The vet diagnosed him with a rare genetic skin condition called epidermolysis bullosa simplex (EBS), which causes the skin to blister easily. Genetic testing revealed a specific mutation in the KRT14 gene that caused this problem. Unfortunately, there is no cure for this condition, but understanding the genetic cause can help manage the cat's symptoms and provide better care.
People also search for: cat skin problems · domestic shorthair cat sores · cat blistering skin disease · KRT14 gene mutation in cats · cat paw pad issues
Abstract
Epidermolysis bullosa simplex (EBS) is a hereditary blistering disease affecting the skin and mucous membranes. It has been reported in humans, cattle, buffaloes and dogs, but so far not in cats. In humans, EBS is most frequently caused by variants in the KRT5 or KRT14 genes. Here, we report a case of feline epidermolysis bullosa simplex and describe the causative genetic variant. An 11-month-old male domestic shorthair cat presented with a history of sloughed paw pads and ulcerations in the oral cavity and inner aspect of the pinnae, starting a few weeks after birth. Clinical and histopathological findings suggested a congenital blistering disease with a split formation within the basal cell layer of the epidermis and oral mucous epithelium. The genetic investigation revealed a homozygous nonsense variant in the KRT14 gene (c.979C>T, p.Gln327*). Immunohistochemistry showed a complete absence of keratin 14 staining in all epithelia present in the biopsy. To the best of our knowledge, this is the first report of feline EBS, and the first report of a spontaneous pathogenic KRT14 variant in a non-human species. The homozygous genotype in the affected cat suggests an autosomal recessive mode of inheritance.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/32657488/