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European Journal of Dermatology

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A novel deletion mutation of the ATP2C1 gene in a family with Hailey-Hailey disease Volume 26, numéro 4, July-August 2016

Illustrations


  • Figure 1
Auteurs
1 Department of Dermatology,
Graduate School of Medicine and Pharmaceutical Sciences,
University of Toyama, Sugitani 2630,
Toyama 930-0194, Japan
2 Department of Dermatology,
Hirosaki University Graduate School of Medicine,
Hirosaki, Japan

Hailey-Hailey disease (MIM 169600; HHD) is an autosomal dominant genodermatosis characterized by loss of adhesion between epidermal cells and abnormal epidermal differentiation [1]. A mutation in the ATP2C1 gene, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1 (SPCA1), has been identified as the cause of this disease [2]. We present a patient with HHD with a severe phenotype, in whom a novel deletion mutation was detected.A 55-year-old Japanese woman presented with a 25-year history of [...]