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    Glossary Junctional Epidermolysis Bullosa

    genetic disorder causing fragile skin that blisters easily

    Junctional Epidermolysis Bullosa (JEB) is a rare genetic disorder characterized by fragile skin that blisters easily, often in response to minor trauma or friction. This condition is caused by mutations in genes responsible for producing proteins that help anchor the outer layer of the skin (epidermis) to the underlying layer (dermis), leading to separation and blister formation at the junction between these layers.

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    1. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    2. P‐35 
Nonlethal junctional epidermolysis bullosa in a dog Veterinary Dermatology · 2004 · 2 citations
    3. 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes Journal of Investigative Dermatology · 2025
    4. Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report Frontiers in genetics · 2022
    5. Junctional Epidermolysis Bullosa, Generalized Intermediate Type 2015
    6. Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa Journal of the American Academy of Dermatology · 2005 · 5 citations
    7. Case of non-Herlitz junctional epidermolysis bullosa with<i>COL17A1</i>mutation The Journal of Dermatology · 2015 · 1 citations
    8. Localized variant of junctional epidermolysis bullosa with R795X mutation Dermatology Reports · 2025
    9. Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa The American Journal of Human Genetics · 1997 · 80 citations
    10. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
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