A Case of Hailey–Hailey Disease in an Infant with a New ATP2C1 Gene Mutation

Abstract

Familial benign chronic pemphigus or Hailey-Hailey disease (OMIM 169600) is an autosomal-dominant blistering disease. Here we present a rare case of familial benign chronic pemphigus in a Chinese infant. The 5-month-old proband, who showed diffusely distributed skin lesions, is the youngest patient of Hailey-Hailey disease ever reported. The detection of an ATP2C1 gene mutation in this infant confirmed the diagnosis. His mother carried the same mutation, but with no history of skin lesions.