Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

Masanori Yamazaki, Tomoki Kosho, Shigeo Kawachi, Maiko Mikoshiba, Jun Takahashi, Rena Sano, Kenji Oka, Kunihiro Yoshida, Tomoharu Watanabe, Hiroyuki Kato, Mitsuhisa Komatsu, Rie Kawamura, Keiko Wakui, Per M. Knappskog, Helge Boman, Yoshimitsu Fukushima

研究成果: Article査読

14 被引用数 (Scopus)

抄録

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in CRLF1 (cytokine receptor-like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in CRLF1 also cause Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions as well as craniofacial and skeletal manifestations and abnormal functions of the autonomic nerve system. To date, it is an unresolved problem whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions or with different presentations depending on the patients' age at diagnosis. We report on a 30-year-old Japanese woman with CISS and homozygous out-of-frame 23-base deletion of CRLF1. In infancy, she did not show paroxysmal muscular contractions, but showed feeding difficulty, hyperthermia, and facial characteristics including thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip, and a small mouth, resembling those observed in CS. Profuse sweating was noticed at 3 years of age. Cold-induced sweating was recognized in her elementary school days. In adolescence to adulthood, she showed a Marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a distinctive nose with hypoplastic nares, malar hypoplasia, prognathism, and a small mouth. This is the first report of detailed longitudinal observation of a patient with CRLF1 abnormalities, compatible with the notion that CISS and CS may be a single clinical entity.

本文言語English
ページ(範囲)764-769
ページ数6
ジャーナルAmerican Journal of Medical Genetics, Part A
152
3
DOI
出版ステータスPublished - 03-2010

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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