Hereditary Mucoepithelial Dysplasia: Unique Histopathological Findings in Skin Lesions

    February 2012 in “ Journal of cutaneous pathology ”
    Laurel A. Leithauser, Diya F. Mutasim
    TLDR The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
    Hereditary mucoepithelial dysplasia (HMD) was a rare, autosomal dominant multisystem disease caused by abnormalities in desmosomes and gap junctions, affecting the skin, mucosae, hair, eyes, and lungs. Patients typically exhibited non-scarring alopecia, mucosal erythema, and erythematous intertriginous plaques. While histopathological findings in mucous membrane epithelium were well documented, only three reports had described skin findings. This study reported a case with unique histopathological skin findings not previously documented in HMD.
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