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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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    Research 30 of 728

    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
    11. Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation International Journal of Trichology · 2014 · 1 citations
    12. 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC) Journal of Investigative Dermatology · 2019
    13. Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro American Journal Of Pathology · 2003 · 20 citations
    14. Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type) Journal of Pediatric and Adolescent Gynecology · 2011
    15. 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells. Journal of Investigative Dermatology · 2025
    16. Epidermolysis bullosa in animals: a review Veterinary Dermatology · 2014 · 33 citations
    17. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    18. 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin Journal of Investigative Dermatology · 2023
    19. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    20. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    21. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    22. Keratins of the Human Hair Follicle International review of cytology · 2005 · 276 citations
    23. Keratin disorders: from gene to therapy 2011 · 109 citations
    24. Keratins and disease at a glance Journal of Cell Science · 2012 · 87 citations
    25. Keratins and skin disease 2015 · 69 citations
    26. Mechanical forces in skin disorders Journal of Dermatological Science · 2018 · 65 citations
    27. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
    28. Keratins: Dynamic, flexible structural proteins of epithelial cells Current problems in dermatology · 2001 · 13 citations
    29. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14 International journal of molecular sciences · 2024
    30. 559 Visualization of sweat suppression following botulinum toxin A by soluble microneedle arrays Journal of Investigative Dermatology · 2016