A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation.
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.
Xu
Zhe
Z
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Zhang
Lixin
L
Xiao
Yuanyuan
Y
Li
Li
L
Lin
Zhimiao
Z
Yang
Yong
Y
Ma
Lin
L
D000328:Adult; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D005192:Family Health; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics* / Q000473:pathology*; D012867:Skin / Q000473:pathology*
C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases