Peer-reviewed veterinary case report
Kitten with blistering skin disease linked to new gene variant
By Fussell, Devin et al.·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2026·College of Veterinary Medicine, United States·View original on PubMed →
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Original publication title: Novel frameshift variant in exon 7 ofin a domestic shorthair kitten with junctional epidermolysis bullosa.
- Species:
- cat
Plain-English summary
A 4-month-old domestic shorthair kitten was brought to the vet with painful blistering skin lesions, especially in areas that experience friction, like the mouth and other sensitive spots. Tests showed that the kitten had a genetic condition called junctional epidermolysis bullosa (JEB), which causes the skin to blister easily. The vet confirmed the diagnosis through skin samples and genetic testing, identifying a specific genetic change responsible for the condition. Unfortunately, there is no cure for JEB, but managing the kitten's skin care and avoiding friction can help keep her comfortable.
People also search for: kitten skin blisters · junctional epidermolysis bullosa in cats · cat skin care for blisters
Abstract
Junctional epidermolysis bullosa (JEB) is a congenital blistering skin disorder with clefting within the lamina lucida of the basement membrane zone. We describe the clinical and morphologic features of JEB in a 4-mo-old domestic shorthair kitten and identify the underlying genetic variant. The kitten was presented with blistering lesions affecting friction-prone areas of haired skin, mucocutaneous junctions, and oral mucosa. Histopathology revealed extensive subepidermal cleft formation in affected tissues. Periodic acid-Schiff (PAS) staining showed a thin, PAS-positive line along the dermal side of the cleft, consistent with retention of the lamina densa. Transmission electron microscopy confirmed separation at the level of the lamina lucida with intact basal keratinocytes. Whole genome sequencing identified a homozygous 2-bp deletion in exon 7 of, predicted to result in loss of function and disrupted binding domains. Our findings support a diagnosis of JEB associated with a novelvariant.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/41588668/