Feldmeyer L, Huber M, Fellmann F, Beckmann J S, Frenk E, Hohl D
Institute of Cell Biology, ETH Zurich, Switzerland.
Hum Mutat. 2006 May;27(5):408-10. doi: 10.1002/humu.20333.
Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene.
新生儿鱼鳞病-硬化性胆管炎（NISCH）综合征是一种罕见的常染色体隐性鱼鳞病综合征，其特征为头皮毛发稀少、瘢痕性脱发、鱼鳞病和硬化性胆管炎，于2002年首次被描述。它是由编码紧密连接蛋白claudin-1的基因突变引起的。迄今为止，仅报道了4例携带相同CLDN1基因突变的患者。我们报告了1例具有NISCH综合征临床特征且携带CLDN1基因新突变的患者。
