遗传性泛发性色素异常症伴发“刀砍征”一例及家系调查
被引量:1
摘要
遗传性泛发性色素异常症(dyschromatosisuniversalishereditaria,DUH)是一种以色素异常改变为特殊表现的遗传性皮肤病,表现为全身泛发大小小等的色素沉着与色素减退混杂呈斑状。该病少见.伴发“刀砍征”者罕见。我们报道1例DUH什发头部刀砍征患者,其家族4代9人同患DUH。
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2012年第9期676-676,共1页
Chinese Journal of Dermatology
参考文献3
-
1Ichikawa T, Hiraga Y. A previously undescribed anomaly of pigmentation dyschromatosis universalis hereditaria. Jpn J Dermatol, 1933, 34: 360-364.
-
2AI HK, AI AK. Ramesh V, et al. Dysehromatosis universalis hereditaria: report of a ease and review of the literature. Pediatr Dermatol, 2002. 19(6): 523-526.
-
3Binitha MP. Thomas D. Asha LK. Tuberous sclerosis cmnplex associated with dyschromatosis universalis hereditaria. Indian J Dcrmatol Venereol Leprol. 2006. 72(4): 300-302.
同被引文献15
-
1Xing QH, Wang biT, Chen XD, et 2. A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2 [J]. Am J Hum Genet, 2003, 73 (2): 377-382. DOI: 10.1086/377007.
-
2Stuhrmann M, Hennies HC, Bukhari IA, et al. Dyschromatosis universalis hereditaria: evidence for autosomal recessiveinheritance and identification of a new locus on chromosome 12q21-q23[J]. Clin Genet, 2008, 73(6): 566-572. DOI: 10.1111/j. _ 1399-0004.2008.01000.x.
-
3Zhang C, Li D, Zhang J, et al. Mutations in ABCB6 cause dyschromatosis universalis hereditaria[J]. J Invest Dermatol, 2013, 133(9): 2221-2228. DOI: 10.1038/jid.2013.145.
-
4Zhou D, Wei Z, Wang T, et al. SASH1 regulates melanocyte transepithelial migration through a novel Gas-SASHI-IQGAP1-E- Cadherin dependent pathway[J]. Cell Signal, 2013, 25 (6): 1526- 1538. DOI: 10.1016/j.
-
5Binitha MP, Thomas D, Asha LK. Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria[J]. Indian J Dermatol Venereol Leprol, 2006, 72 (4): 300-302. DOI: 10.4103/ 0378-6323.26729.
-
6Kim NS, Im S, Kim SC. Dyschromatosis universalis hereditaria: an electron microscopic examination [Jl. J Dermatol, 1997, 24: 161- 164. DOI: 10.1 lll/j.1346-8138.1997.tbO2764.x.
-
7Miyamura Y, Suzuki T, Kono M, et al. Mutations of the RNA- specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria [J]. Am J Hum Genet, 2003,73(3 ):693-699.
-
8Cui YX, Xia XY, Zhou Y, et al. Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria [J]. PLoS One, 2013, 8 (11): e79808. DOI: 10.1371/journal.pone.0079808.
-
9Liu H, Li Y, Hung KK, et al. Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dysehromatosis universalis hereditaria[J].PLoS One, 2014, 9(2): e87250. DOI: lO.1371/journal.pone.O087250.
-
10Lu C, Liu J, Liu F, et al. Novel missense mutations of ABCB6 in two chinese families with dysehromatosis universalis hereditaria [J]. J Derrnatol Sei, 2014, 76 (3): 255-258. DOI: 10.1016/j.jdermsei. 2014.08.015.
引证文献1
-
1姚磊,曾磊,付旭辉,汤华阳,李蔚然,陈刚,孙良丹,高敏,王培光,杨森,张学军.SASH1基因新杂合错义突变与遗传性泛发性色素异常症一家系相关[J].中华皮肤科杂志,2016,49(2):77-81. 被引量:3
二级引证文献3
-
1陈忠业,徐羽建,曾令济,王丽金.遗传性泛发性色素异常症伴副银屑病1例[J].中国皮肤性病学杂志,2018,32(6):679-681. 被引量:1
-
2张天骄,杨秀敏,魏爱华.泛发性雀斑样痣三例SASH1基因突变研究[J].实用皮肤病学杂志,2020,13(6):333-336. 被引量:1
-
3宋元涛,荣美香,廉佳,毕田田,李钦峰.SASH1基因突变引起的遗传性泛发性色素异常症1例[J].中国皮肤性病学杂志,2022,36(9):1083-1085.
-
1曹元华,燕淑美.遗传性泛发性色素异常症一家系10例[J].岭南皮肤性病科杂志,1997,4(4):39-40.
-
2鲁严,朱文元.遗传性泛发性色素异常症1例[J].临床皮肤科杂志,2002,31(11):705-707. 被引量:9
-
3熊瑛,柴宝,金丽.遗传性泛发性色素异常症一家系6例[J].实用医学杂志,2011,27(19):3595-3596.
-
4曹索奇,胡浪,余跃德.遗传性泛发性色素异常症一家系六例[J].中华医学遗传学杂志,2007,24(4):408-408.
-
5王建波,周武,徐玉萍,雷冬春,王国芳,吴淑萍,宋静卉,李建国,李振鲁,王豫平.遗传性泛发性色素异常症1家系并文献复习(附197例分析)[J].中国皮肤性病学杂志,2013,27(11):1142-1145. 被引量:2
-
6辛甜甜,王晓华,蔡碧珊,潘慧清,陈永锋.遗传性泛发性色素异常症临床特点与病理分析[J].皮肤性病诊疗学杂志,2012,19(6):335-338.
-
7崔荣.2例中国人遗传性泛发性色素异常症报道[J].世界核心医学期刊文摘(皮肤病学分册),2005,0(10):39-39.
-
8侯玉鸿,陈家琨,王载明.组织样麻风瘤10例分析[J].中国麻风皮肤病杂志,2006,22(5):391-392.
-
9刘丹,付希安,暴芳芳,史本青,刘红,田洪青,张福仁.遗传性泛发性色素异常症ABCB6基因突变检测[J].中国麻风皮肤病杂志,2014,30(9):538-540.
-
10简华慧,黄永通,蒙安定.特殊表现的二期梅毒28例分析[J].齐齐哈尔医学院学报,2004,25(6):638-638.