皮肤病论文栏目提供最新皮肤病论文格式、皮肤病硕士论文范文。详情咨询QQ:357500023

遗传性对称性色素异常症研究进展的综述

论文编号:lw201604271134523574 所属栏目:皮肤病论文 发布日期:2018年01月15日 论文作者:无忧论文网

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


参考文献
[1] Gommans WM,McCane J,Nacarelli GS,Maas S. A mammalian reporter system for fast and quantitative detection of intracellular A-to-I RNA editing levels .Anal Biochem, 2010, 399 (2) :230-236 .
[2] Oyama M, Shimizu H, Ohata Y. et a1.Dyschromatosis symmetrica hereditaria(reticulate acropigmentation of Dohi): report of a Japanese family with the condi.tion and a literature review of 185 cases[J].Br t, Dermatol, 1999, 140(3): 491-6.
[3] Wolff KC,Samuel CE. RNA adenosine deaminase ADAR1 deficiency leads to increased activation of protein kinase PKR and reduced vesicular stomatitis virus growth following interferon treatment .Virology, 2010, 396 (2) :316-22 .
[4]  Toyama I. Dyschromatosis symmetrica hereditaria. Jpn J Dermatol 1929; 27: 95–6
[5]  Matsumoto  S.  Leucopathia  punctata  et  reticularis  symmetrica. Acta Dematol 1923; 2: 191–7 .
[6] Komaya  G.  Symmetrische  Pigmentanomalie  der  Extremita¨ten. Arch Dermatol Syphilol 1924; 147: 389–93.
[7] Ohtoshi E, Matsumura Y, Nishigori C,et al. Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum. Br J Dermatol. 2001;144(1):162-8.
[8] Patrizi A, Manneschi V, Pini A, Baioni E, et al. Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report. Acta Derm Venereol. 1994 ;74(2):135-7.
[9] Kono M, Miyamura Y, Matsunaga J, et al. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9. J Dermatol Sci. 2009 ;22(2):88-95.
[10] Xing QH, Wang MT, Chen XD, et al. A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. Am J Hum Genet. 2003 Aug;73(2):377-82.
[11] Zhang XJ, Gao M, Li M, et al. Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11- 1q21. J Invest Dermatol, 2003, 120: 776-80.
[12] He 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: 633-9.
[13]  Miyamura Y, Suzuki T, Kono M,et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet. 2003;73(3):693-9.
[14] KimU,WangY,Sanford T,et al.Molecular cloning of cDNA for double- stranded RNA adenosine deaminase.a candidate enzyme for nuelear RNA editing. Proc Narl Acad Sei USA,1994,91(24):11457-61.
[15] O'Connell MA, Krause S, Higuchi M, Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol Cell Biol. 1995;15(3):1389-97.
[16] Yang JH, Luo X, Nie Y,et al. Widespread inosine-containing mRNA in lymphocytes regulated by ADAR1 in response to inflammation. Immunology. 2003 ;109(1):15-23.
[17] Dong Y,Xiao S,Ren J,et al. Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH) .Int J Dermatol, 2011, 50 (3) :375-378 . 
[18] Jianyun L