Localized Variant of Junctional Epidermolysis Bullosa With R795X Mutation

    January 2025 in “ Dermatology Reports ”
    Stefano Bighetti, Luca Bettolini, Sara Rovaris, Antonio Novelli, Paolo Incardona, Piergiacomo Calzavara‐Pinton, Simone Caravello, Vincenzo Maione
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    TLDR Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
    This report details a case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) associated with the R795X mutation in the COL17A1 gene. The patient exhibited bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas, along with dystrophic nails. Genetic analysis confirmed the R795X mutation, highlighting a rare form of JEB. The case emphasizes the importance of early and accurate diagnosis in managing rare genetic disorders, as misdiagnosis can lead to ineffective treatments. This variant is predominantly observed in Italian populations, suggesting a potential founder effect.
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