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A novel mutation in the ATP2C1 gene is associated with Hailey–Hailey disease in a Chinese family

Background  A three‐generation Chinese family with Hailey–Hailey disease (HHD) was identified and characterized. The proband developed HHD with severe recurrent blisters and crusted erosions involving the body folds. Skin biopsy studies showed epidermal hyperkeratosis and defects in cell‐to‐cell adhesion. Three other members in the family were also affected with HHD and had the same clinical manifestations. The purpose of this study was to identify the pathogenic gene or mutation in the family.