Case of Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutation

    January 2015 in “ The Journal of Dermatology ”
    Hiroko Kasai, Takashi Sasaki, Hitomi Matsuzaki, Toshimasa Yoshioka, Keisuke Nagao, Masayuki Amagai, Akira Ishiko, Akiharu Kubo
    TLDR Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
    The document described a case of non-Herlitz junctional epidermolysis bullosa (JEB) associated with a mutation in the COL17A1 gene. This condition is characterized by skin fragility and blistering, but the non-Herlitz form is generally less severe than the Herlitz type. The report highlighted the clinical features and genetic findings of the patient, contributing to the understanding of the genetic basis and variability of JEB. The study emphasized the importance of genetic testing in diagnosing and managing this rare skin disorder.
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