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.

中文翻译：

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短毛猫表皮松解的家养短毛猫的KRT14基因无意义变异。

大疱表皮松解症（EBS）是一种遗传性水疱性疾病，会影响皮肤和粘膜。据报道在人类，牛，水牛和狗中，但迄今为止在猫中没有。在人类中，EBS最常见是由KRT5或KRT14的变异引起的基因。在这里，我们报告一例猫大疱性表皮松解症并描述了致病性遗传变异。一只11个月大的雄性家养短毛猫从出生后几周开始，就出现了其口腔和耳廓内侧凹陷的爪垫和溃疡的病史。临床和组织病理学发现提示一种先天性水疱病，在表皮和口腔粘膜上皮的基底细胞层内形成分裂。基因研究表明，KRT14基因是纯合的无意义变异（c.979C> T，p.Gln327 *）。免疫组织化学显示活检中存在的所有上皮细胞完全没有角蛋白14染色。据我们所知，这是猫EBS的首次报道，也是自发致病性的首次报道。非人类物种中的KRT14变体。患病猫的纯合基因型表明是常染色体隐性遗传方式。