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    Glossary Epidermolysis Bullosa Simplex

    genetic disorder causing fragile skin that blisters easily

    Epidermolysis Bullosa Simplex (EBS) is a genetic skin disorder characterized by fragile skin that easily blisters, especially in response to minor injuries or friction. This condition occurs due to mutations in genes responsible for producing keratin proteins, which are essential for skin integrity.

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    1. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    2. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    3. 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
    4. 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
    5. Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules Journal of Investigative Dermatology · 2017 · 14 citations
    6. Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives International Journal of Molecular Sciences · 2024 · 9 citations
    7. Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families Frontiers in Medicine · 2024 · 3 citations
    8. Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity 2020 · 3 citations
    9. Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i> Journal of Dermatology · 2019 · 3 citations
    10. Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type Journal of the American Academy of Dermatology · 2012 · 2 citations
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