一家三代4例遗传性对称性色素异常症
摘要
临床资料 先证者男,22岁。因双手足色素减退伴色素沉着斑17年,于2008年5月5H到我院就诊。患者5岁时发现双手指背及足背出现白斑,间有褐色斑,无痒痛感,皮损不随季节改变。随年龄增长皮损逐渐扩大至整个手背、腕部及足背部。体检:各系统检查无异常。皮肤科检查:双手背、腕部、
出处
《中国麻风皮肤病杂志》
2009年第6期462-463,共2页
China Journal of Leprosy and Skin Diseases
参考文献3
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1Zhang XJ, He PP, Li M, et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dychromatosis symmetrica hereditaria ( DSH ). Hum Murat 2004; 23 ( 6 ) : 629 - 630.
-
2刘红,蒋德科,田洪青,张福仁,余龙.遗传性对称性色素异常症6个新的致病基因突变研究[J].中国麻风皮肤病杂志,2008,24(1):3-5. 被引量:5
-
3张福仁,刘红,蒋德科,田洪青,余龙.遗传性对称性色素异常症2例基因诊断[J].临床皮肤科杂志,2008,37(5):284-286. 被引量:2
二级参考文献15
-
1杨勇,李颂,李航,卜定方,汪科,涂平,朱学骏.3个遗传性对称性色素异常症家系中DSRAD基因的突变[J].北京大学学报(医学版),2004,36(5):466-468. 被引量:7
-
2姜祎群,孙建方,陈柳青,吴黎明,徐秀莲.遗传性对称性色素异常症一家系中不典型白癜风患者1例[J].临床皮肤科杂志,2005,34(8):519-521. 被引量:1
-
3Zhang XJ, Gao M, Li M, et al. Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J Invest Dermatol 2003; 120(5) :776- 778.
-
4Miyamura Y, Suzuki T. Mutations of the RNA - Specific adenosine deaminase Gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003;73(3) :693 - 699.
-
5Zhang XJ, He PP, Li M, et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromtosis symmetrica hereditaria (DSH). Hum Mutant 2004;23:629-630.
-
6Hou Y, Chen J, Gao M, et al. Five novel mutations of RNA- specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria. Acta Derm Venereol 2007;87(1) : 18 - 21.
-
7Suzuki N, Suzuki T, Inagaki K, et al. Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria. J Invest Dermatol 2007;127(2) :309- 311.
-
8Lu J, Liao Z, Chen J, et al. Identification of two novel DSRAD mutations in two Chinese families with dysehromatosis symmetrica hereditaria. Arch Dermatol Res 2006;298(7):357- 360.
-
9Liu Y, Xiao SX, Peng ZH, et al. Two frameshift mutations of the double - stranded RNA - specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. Br J Dermatol 2006; 155(2) :473 - 476.
-
10He PP, He CD, Cui Y, et al. Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4 - cM region at 1q21 - 22 and a literature review of 136 cases reported in China. Br J Dermatol 2004; 150(4) :633 - 639.
共引文献5
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1刘艳,彭振辉,肖生祥,李晓莉,任建文,吴佳纹.遗传性对称性色素异常症家系的DSRAD基因突变[J].中国皮肤性病学杂志,2009,23(5):271-272. 被引量:1
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2刘艳,刘峰,王晓鹏,许庆强,李晓莉,任建文,董颖颖,吴佳纹,彭振辉,肖生祥.遗传性对称性色素异常症一家系基因突变研究[J].中国麻风皮肤病杂志,2011,27(2):105-106. 被引量:1
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3赖美玲,吉津,杨莉佳.遗传性对称性色素异常症两家系ADAR1基因新突变[J].临床皮肤科杂志,2011,40(5):265-267.
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4王世东,常淑平,王志慧.遗传性对称性色素异常一家系调查[J].中国误诊学杂志,2012,12(3):621-622.
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5杨文林,林杨杨,杨健,黄桃源,史毓杰.遗传性对称性色素异常症家系的ADAR1基因突变[J].中国皮肤性病学杂志,2013,27(3):228-230.
-
1管德喜.一家三代5例着色性干皮病报告[J].皮肤病与性病,1991,13(3):39-39.
-
2朱文全,蒋建震,卞国玮.持久性豆状角化过度病1例[J].临床皮肤科杂志,2009,38(12):782-782. 被引量:1
-
3徐卫海.一家三代五人患多形红斑一例报告[J].西北国防医学杂志,1997,18(1):22-22.
-
4曾令济.汗渍性掌红斑5例报告[J].武汉医学杂志,1989,13(3):86-86.
-
5王支琼.一家三代同患遗传性对称性色素异常症4例[J].中国皮肤性病学杂志,2011,25(12):981-981. 被引量:1
-
6李东煜,苏怡茜.肥厚型心肌病一家三代5例报告[J].农垦医学,2001,23(3):215-216.
-
7胡文治,祃丽娟,赵广.遗传性对称性色素异常症1家系报告[J].中国皮肤性病学杂志,2013,27(7):735-736.
-
8李世军,汪宇,林建红,张伟,周文明,陆洪光.手足银屑病1例[J].中国皮肤性病学杂志,2017,31(4):466-466.
-
9陈锦辉,蔡洵良.一家三代五人同患梅毒[J].岭南皮肤性病科杂志,1998,5(3):42-42.
-
10杨晓,杨志敏.一家三代八人患麻风病调查报告[J].皮肤病与性病,2003,25(2):59-59.