遗传性泛发性色素异常症1家系并文献复习(附197例分析)  

Dyschromatosis Universalis Hereditaria: Report of A Novel Chinese Family with the Condition and A Literature Review of 197 Cases

作　　者：王建波[1,2] 周武[1,2] 徐玉萍[1,2] 雷冬春[1,2] 王国芳[1,2] 吴淑萍[1,2] 宋静卉[1,2] 李建国[1,2] 李振鲁[1,2] 王豫平[1,2] 

机构地区：[1]河南省人民医院皮肤科,河南郑州450003 [2]郑州大学人民医院皮肤科,河南郑州450003

出　　处：《中国皮肤性病学杂志》2013年第11期1142-1145,共4页The Chinese Journal of Dermatovenereology

摘　　要：目的探讨遗传性泛发性色素异常症的流行病学特征、临床表现及遗传学特点。方法报告临床特征独特的1典型家系,结合文献对国内外197例该病患者总结分析。结果遗传性泛发性色素异常症的流行病学特征、临床表现及遗传学特点在世界不同地区存在差异。结论遗传性泛发性色素异常症应有多种临床表型,且每种表型都应有与其对应的基因突变位点,位于ABCB6基因或其他未知基因。临床表型的划分和寻找各表型对应的基因突变位点将是近一段对本病的研究方向。Objective To investigate the epidemiologic features, characteristic clinical and genetic characteristic o[＇ dyschromatosis universalis hereditaria（DUH）. Methods Report a novel family of DUH and review 197 ea- ses reported in the literature. Results We found differences in the epidemiological features, characterislic clinical and genetic characteristic among these cases from different places around the world. Conclusion We speculate that there are some different clinical phenotypes of DUH, and each might be related with dif- ferent mutations of ABCB6 or other genes, which warrant further research.

关 键 词：遗传性泛发性色素异常症 遗传性皮肤病 色素异常 

分 类 号：R758.54[医药卫生—皮肤病学与性病学]