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

    Research 10 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
    All research results →

    Learn

    — no results

    Try a deeper search in learn →

    Community

    — no results

    Try a deeper search in community →