Peer-reviewed veterinary case report
Blistering skin disease in Eurasier puppies caused by PLEC gene defect
By Mauldin, Elizabeth A et al.·Published in Veterinary dermatology·2017·Department of Pathobiology, United States·View original on PubMed →
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Original publication title: Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.
- Species:
- dog
Plain-English summary
Three Eurasier puppies, just 20 days old, were brought in because they were not growing well and had painful ulcers on their lips, tongue, and paws. Unfortunately, due to their severe condition, they were euthanized. Tests showed that the puppies had a genetic issue affecting a protein called plectin, which is important for skin health. This deficiency led to the blistering skin disease known as epidermolysis bullosa simplex (EBS). This case highlights a new genetic cause of this serious skin condition in dogs.
People also search for: puppy skin blisters · Eurasier puppy health issues · epidermolysis bullosa simplex in dogs
Abstract
BACKGROUND: Plectin, a large linker protein found in many tissues, acts to connect components of the cytoskeleton to each other. In the epidermis, plectin binds keratin intermediate filaments to hemidesmosomes. A deficiency of plectin in the skin leads to blister formation in the basal layer and the disease epidermolysis bullosa simplex (EBS). HYPOTHESIS/OBJECTIVES: To describe a novel blistering disease that arose spontaneously in a litter of puppies. ANIMALS: Two female and one male 20-day-old Eurasier puppies, from a litter of six, were presented for evaluation of failure to thrive and then euthanized due to poor prognosis. The puppies had ulcers on the lips, tongue, nasal planum, paw pads and abdomen. RESULTS: Immunolabelling on frozen skin for basement membrane proteins revealed patchy and weak to absent staining for plectin as compared with strong linear staining in normal dogs. Ultrastructurally, hemidesmosomes were irregularly shaped and had loss of distinction between inner and outer plaques. Pedigree analysis supported an autosomal recessive mode of inheritance. A premature stop codon was discovered in exon 27 of PLEC that resulted in the production of a severely truncated protein. CONCLUSION: The study describes the first documented spontaneous EBS associated with a PLEC variant in domestic animals.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/27878870/