Buteică Elena, Burada F, Stoicescu Irina, Stănoiu B, Georgescu Claudia Valentina
Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania.
Rom J Morphol Embryol. 2007;48(4):423-6.
Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardation. At Hailey-Hailey case, the skin lesions are associated with neuropsychiatric and endocrinologic disorders. In both cases, the mutation is inherited from parents. Even if this diseases have similar features, clinical, genetical and histopathological they are distinct entities.
达里埃病（DD）和黑利-黑利病（HHD）是常染色体显性遗传的遗传性皮肤病，分别由ATP2A2基因和ATP2C1基因突变引起。我们对两名患者进行了临床和实验室研究——一名患有达里埃病的男性和一名患有黑利-黑利病的女性。患有达里埃病的患者有黏膜病变和牙齿改变，并伴有轻度智力障碍。在黑利-黑利病病例中，皮肤病变与神经精神和内分泌紊乱有关。在这两个病例中，突变均遗传自父母。即使这两种疾病具有相似的临床、遗传和组织病理学特征，但它们是不同的疾病实体。
