Focal Palmoplantar Callosities in Non-Herlitz Junctional Epidermolysis Bullosa

    February 2005 in “ Journal of the American Academy of Dermatology ”
    Hiroshi Mitsui, Takahiro Watanabe, Mayumi Komine, Hiroyuki Nakamura, Hiroshi Shimizu, Kunihiko Tamaki
    TLDR Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
    The document described a case of a 41-year-old man with non-Herlitz junctional epidermolysis bullosa (JEB-nH) who presented with focal palmoplantar callosities, an unusual feature for this condition. The patient had lifelong symptoms including blistering, hair and nail changes, and atrophic alopecia. Genetic testing identified a homozygous mutation in the COL17A1 gene, confirming JEB-nH. The study proposed that focal palmoplantar callosities might be a clinical feature of JEB-nH, aiding in early diagnosis, and suggested a link between keratin mutations and hyperkeratosis, enhancing the understanding of JEB-nH's clinical manifestations.
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