Search
for

    Glossary Dystrophic Epidermolysis Bullosa

    rare genetic disorder causing fragile, blistering skin from minor trauma

    Dystrophic Epidermolysis Bullosa (DEB) is a rare genetic disorder characterized by extremely fragile skin that blisters and tears from minor friction or trauma. This condition is caused by mutations in the COL7A1 gene, which affects the production of type VII collagen, a protein essential for anchoring the layers of skin together.

    Related Terms

    Sort by

    Research 30 of 1000+

    1. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    2. LB918 Analysis of National Inpatient Sample to characterize admissions for pediatric patients with dystrophic epidermolysis bullosa Journal of Investigative Dermatology · 2024
    3. 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2022
    4. Dominant dystrophic epidermolysis bullosa: Seven familial cases Journal of The American Academy of Dermatology · 2009
    5. 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation 2022
    6. No Evidence That Human Papillomavirus Is Responsible for the Aggressive Nature of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Journal of Investigative Dermatology · 2010 · 14 citations
    7. 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes 2017 · 5 citations
    8. CRISPR/Cas9-Mediated Generation of <i>COL7A1</i>-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa. PubMed · 2023 · 2 citations
    9. 572 Defining chronic wound types in recessive dystrophic epidermolysis bullosa patients for clinical outcome assessment Journal of Investigative Dermatology · 2018 · 2 citations
    10. Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells Journal of Dermatological Science · 2024 · 1 citations
    11. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    12. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    13. 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2024
    14. Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa EMBO molecular medicine · 2024
    15. KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA Media Dermato Venereologica Indonesiana · 2023
    16. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
    17. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022
    18. 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa Journal of Investigative Dermatology · 2019
    19. 577 Successful allogeneic epidermal grafting of chronic recessive dystrophic epidermolysis bullosa wounds from hematopoietic cell donors in the outpatient setting Journal of Investigative Dermatology · 2019
    20. 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
    21. Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study Journal of Tissue Viability · 2020 · 7 citations
    22. 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Journal of Investigative Dermatology · 2024
    23. Epidermolysis bullosa in animals: a review Veterinary Dermatology · 2014 · 33 citations
    24. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    25. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    26. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    27. 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin Journal of Investigative Dermatology · 2023
    28. 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
    29. 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
    30. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019