Cold-Induced Sweating Syndrome Type 1, with a CRLF1 Level Mutation, Previously Associated with Crisponi Syndrome
Cold-Induced Sweating Syndrome Type 1, with a CRLF1 Level Mutation, Previously Associated with Crisponi Syndrome
复制标题
DOI：
10.1159/000351880
复制
发表时间：
2013-01-01
期刊：
影响因子：
3.4
通讯作者：
Perez Oliva, N.
中科院分区：
文献类型：
--
作者：
Gonzalez Fernandez, D.;Lazaro Perez, M.;Perez Oliva, N.
简介：冷诱导出汗综合征1型（CISS 1）是一种罕见的常染色体隐性遗传性皮肤病，由CRLF 1基因突变引起，其特征是当环境温度低于22摄氏度时大量出汗和形态学改变。CRLF1突变也会导致Crisponi综合征（CS），表现为新生儿肌肉收缩，形态学障碍和自主神经系统的改变。病例报告：一名30岁男子因多汗寻求治疗。他的病历包括新生儿因全身性高渗而入院。临床检查发现形态学改变。要求进行遗传学研究，检测CRLF1基因纯合性中的c.713dupC突变。结论：我们报告的情况下，男性的临床和基因诊断的CISS 1谁在儿童期表现出临床特征的CS。CRLF 1中检测到的突变尚未在CISS 1患者中描述，但在CS患者中有一例。这些数据似乎支持CS和CISS 1是同一种疾病的变体的理论。(C)2013 S. Karger AG，巴塞尔
Introduction: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene, characterized by profuse sweating when the ambient temperature is below 22 degrees C and morphological alterations. CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. Case Report: A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations. A genetic study was requested, detecting a c.713dupC mutation in homozygosity in the CRLF1 gene. Conclusions: We report the case of a male with clinical and genetic diagnosis of CISS1 who in childhood presented clinical characteristics of CS. The mutation detected in CRLF1 has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder. (C) 2013 S. Karger AG, Basel