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Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation
Author(s) -
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
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33315
Subject(s) - medicine , craniofacial , nose , ptosis , hypoplasia , deformity , craniofacial abnormality , anatomy , surgery , psychiatry
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. © 2010 Wiley‐Liss, Inc.