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Darierova choroba

  1. Subject h.Darierova choroba
    Subject h.Darier Disease
    Entry termsacrokeratosis verruciformis Hopf
    Darierova-Whiteova choroba
    keratóza folikulová
    keratosis follicularis
    keratóza folikulárna
    English X referencesAcrokeratosis Verruciformis of Hopf
    Darier-White Disease
    Keratosis Follicularis
    Scope note in EnglishAn autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
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