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

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)764-769
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number3
DOIs
Publication statusPublished - 01-03-2010

Fingerprint

Cytokine Receptors
Observation
Mutation
Sweating
Muscle Contraction
Nose
Mouth
Prognathism
Eyebrows
Autonomic Pathways
Cheek
Lip
cytokine-like factor-1
Crisponi syndrome
Fever

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Yamazaki, Masanori ; Kosho, Tomoki ; Kawachi, Shigeo ; Mikoshiba, Maiko ; Takahashi, Jun ; Sano, Rena ; Oka, Kenji ; Yoshida, Kunihiro ; Watanabe, Tomoharu ; Kato, Hiroyuki ; Komatsu, Mitsuhisa ; Kawamura, Rie ; Wakui, Keiko ; Knappskog, Per M. ; Boman, Helge ; Fukushima, Yoshimitsu. / Cold-induced sweating syndrome with neonatal features of Crisponi syndrome : Longitudinal observation of a patient homozygous for a CRLF1 mutation. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 3. pp. 764-769.
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abstract = "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.",
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Yamazaki, M, Kosho, T, Kawachi, S, Mikoshiba, M, Takahashi, J, Sano, R, Oka, K, Yoshida, K, Watanabe, T, Kato, H, Komatsu, M, Kawamura, R, Wakui, K, Knappskog, PM, Boman, H & Fukushima, Y 2010, 'Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation', American Journal of Medical Genetics, Part A, vol. 152, no. 3, pp. 764-769. https://doi.org/10.1002/ajmg.a.33315

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome : Longitudinal observation of a patient homozygous for a CRLF1 mutation. / Yamazaki, Masanori; Kosho, Tomoki; Kawachi, Shigeo; Mikoshiba, Maiko; Takahashi, Jun; Sano, Rena; Oka, Kenji; Yoshida, Kunihiro; Watanabe, Tomoharu; Kato, Hiroyuki; Komatsu, Mitsuhisa; Kawamura, Rie; Wakui, Keiko; Knappskog, Per M.; Boman, Helge; Fukushima, Yoshimitsu.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 3, 01.03.2010, p. 764-769.

Research output: Contribution to journalArticle

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T1 - Cold-induced sweating syndrome with neonatal features of Crisponi syndrome

T2 - Longitudinal observation of a patient homozygous for a CRLF1 mutation

AU - Yamazaki, Masanori

AU - Kosho, Tomoki

AU - Kawachi, Shigeo

AU - Mikoshiba, Maiko

AU - Takahashi, Jun

AU - Sano, Rena

AU - Oka, Kenji

AU - Yoshida, Kunihiro

AU - Watanabe, Tomoharu

AU - Kato, Hiroyuki

AU - Komatsu, Mitsuhisa

AU - Kawamura, Rie

AU - Wakui, Keiko

AU - Knappskog, Per M.

AU - Boman, Helge

AU - Fukushima, Yoshimitsu

PY - 2010/3/1

Y1 - 2010/3/1

N2 - 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.

AB - 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.

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