| Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. | |
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MedLine Citation:
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PMID: 20186812 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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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 |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-01 Completed Date: 2010-04-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 764-9 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Adult Age Factors Autonomic Nervous System Diseases / genetics Base Sequence Cold Temperature / adverse effects* Consanguinity Contracture / genetics Craniofacial Abnormalities / genetics DNA Mutational Analysis Female Genes, Recessive Homozygote Humans Hyperhidrosis / genetics* Infant, Newborn Receptors, Cytokine / genetics* Sequence Deletion* Sweating / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Cytokine; 0/cytokine-like factor-1 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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