González Fernández D, Lázaro Pérez M, Santillán Garzón S, Alvarez Martínez V, Encinas Madrazo A, Fernández Toral J, Pérez Oliva N
Department of Dermatology, Central University Hospital of Asturias, Asturias, Spain.
Dermatology. 2013;227(2):126-9. doi: 10.1159/000351880. Epub 2013 Aug 30.
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°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.
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.
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.
1型冷诱导出汗综合征（CISS1）是一种罕见的常染色体隐性遗传性皮肤病，由CRLF1基因突变引起，其特征是环境温度低于22°C时大量出汗以及形态学改变。CRLF1基因突变还会导致克里斯波尼综合征（CS），表现为新生儿肌肉收缩、形态学障碍和自主神经系统改变。
一名30岁男性因大量出汗寻求治疗。他的病历包括因全身张力亢进新生儿期入院。临床检查发现形态学改变。进行了基因研究，检测到CRLF1基因纯合子中的c.713dupC突变。
我们报告了一例临床和基因诊断为CISS1的男性病例，其在儿童期表现出CS的临床特征。在CISS1患者中未发现CRLF1基因中检测到的这种突变，但在一名CS患者中发现过。这些数据似乎支持CS和CISS1是同一疾病变体的理论。
