A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation.

Authors:
Yuanyuan Xiao
Yuanyuan Xiao
Kunming Medical University
Epidemiology, Biostatistics
China

Pediatr Dermatol 2011 Mar-Apr;28(2):165-8

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.

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.

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Source
http://dx.doi.org/10.1111/j.1525-1470.2010.01088.xDOI Listing
August 2011
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