TLDR Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
The review discussed epidermolysis bullosa (EB), a hereditary disease affecting both animals and humans, characterized by skin and mucous membrane fragility leading to blisters and erosions from minor trauma. EB was caused by mutations in genes responsible for structural proteins in the skin. It was categorized into three types: epidermolysis bullosa simplex, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa. While human EB subtypes were well-defined, animal subtypes were not fully established. The review highlighted that in animals, except buffaloes, EB presented with multifocal ulcers in the oral cavity and deformities in hooves or claws, similar to nail issues in humans. The review covered molecular biology, diagnosis, classification, clinical signs, and pathology of EB in animals.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
2 citations
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August 2004 in “Veterinary Dermatology” A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
66 citations
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June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
