遗传性对称性色素异常症研究进展的综述

发布时间：2016-05-03 16:15

1临床对 DSH认识

上世纪末DSH认识甚少，文献对该病的报道多为个案报道，不能对该病做出系统的阐述。如Toyama[4]描述了1例13岁男性患者，其主要表现为四肢色素沉着斑，面部色素沉着类似雀斑样表现，并首次将具有这样表现的疾病命名为DSH。而在这之前的关于该病的报道则比较紊乱，如1923年Matsumoto[5]报道了7例类似DSH疾病，他将该病定义为白斑或其他疾病。Komaya[6]报道12例色素沉着性疾病，但对他们所报道的文献进行复习，可确定这12例患者均为DSH。当时对DSH认识：1）发生与婴幼儿或青少年的无症状的色素沉着，，其主要以四肢外侧或背部色素沉着为表现，也可表现为面部类雀斑样色素沉着。2) 皮损在婴幼儿或青少年时期逐渐增大，但随着患儿成长，皮损扩展逐渐停止，但皮损将一直持续存在。3）一些学者认识到该病可能为常染色体显性遗传，且皮损可能因光照而加重。4）该病一度被认为只发生于亚洲特别是韩国和日本，但Siemens和Costa于1964年和1951年的报道证实该病同样存在欧洲和美洲。
1994年Patrizi 报道了一家庭4例（3男1女）DSH患者，3例患者皮损表现多样，包括色素沉着和色素减退，主要发生与双侧足背部，所有患者面部均出现雀斑样表现，患儿的父亲具有对称性色素减退如白癜风样皮肤表现。直到1999年Oyama M等[2]通过文献复习的方式将DSH做了全面的介绍，他们通过对185例文献报道DSH患者进行复习发现该病属于常染色体显性遗传，且73%DSH患者于6岁以前发病，83%患者首次出现皮损的部位在四肢伸侧，只有14%患者首次发病皮损以面部为主，但随着皮损进展，大部分患者会出现面部表现。
DSH与着色性干皮病临床表现具有较多的相似点，给临床诊断带来了困难，但2001年Ohtosi等[7]采用DNA修复技术对4例DSH患者进行鉴别诊断，证实该技术可以使DSH诊断更加精确，他们认为使用该技术可以对临床表现不典型的DSH患者进行鉴别诊断，使对该病的诊断更加准确。

2致病基因DSRAD

2.1基因定位：
2.2 DSRAD基因：
3 DSRAD基因突变种类


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