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    Localized Variant of Junctional Epidermolysis Bullosa With R795X Mutation

    January 2025 in “ Dermatology Reports ”
    Stefano Bighetti, Luca Bettolini, Sara Rovaris … Vincenzo Maione
    Studysummary This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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