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    Glossary Epidermolysis Bullosa

    genetic disorder causing extremely fragile, blister-prone skin

    Epidermolysis Bullosa (EB) is a group of rare genetic disorders that cause the skin to be extremely fragile, leading to blistering and tearing from minor friction or trauma. This condition can range from mild to severe, affecting not only the skin but also mucous membranes and internal organs in some cases.

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    Research 10 of 728

    1. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    2. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    3. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    4. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    5. Epidermolysis bullosa in animals: a review Veterinary Dermatology · 2014 · 33 citations
    6. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    7. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case Clinical Genetics · 2004 · 26 citations
    8. Stem Cell Therapies for Epidermolysis Bullosa Treatment Bioengineering · 2023 · 22 citations
    9. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    10. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
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