1臨床對 DSH認識

上世紀末DSH認識甚少，文獻對該病的報道多為個案報道，不能對該病做出系統(tǒng)的闡述。如Toyama[4]描述了1例13歲男性患者，其主要表現(xiàn)為四肢色素沉著斑，面部色素沉著類似雀斑樣表現(xiàn)，并首次將具有這樣表現(xiàn)的疾病命名為DSH。而在這之前的關于該病的報道則比較紊亂，如1923年Matsumoto[5]報道了7例類似DSH疾病，他將該病定義為白斑或其他疾病。Komaya[6]報道12例色素沉著性疾病，但對他們所報道的文獻進行復習，可確定這12例患者均為DSH。當時對DSH認識：1）發(fā)生與嬰幼兒或青少年的無癥狀的色素沉著，，其主要以四肢外側(cè)或背部色素沉著為表現(xiàn)，也可表現(xiàn)為面部類雀斑樣色素沉著。2) 皮損在嬰幼兒或青少年時期逐漸增大，但隨著患兒成長，皮損擴展逐漸停止，但皮損將一直持續(xù)存在。3）一些學者認識到該病可能為常染色體顯性遺傳，且皮損可能因光照而加重。4）該病一度被認為只發(fā)生于亞洲特別是韓國和日本，但Siemens和Costa于1964年和1951年的報道證實該病同樣存在歐洲和美洲。
1994年Patrizi 報道了一家庭4例（3男1女）DSH患者，3例患者皮損表現(xiàn)多樣，包括色素沉著和色素減退，主要發(fā)生與雙側(cè)足背部，所有患者面部均出現(xiàn)雀斑樣表現(xiàn)，患兒的父親具有對稱性色素減退如白癜風樣皮膚表現(xiàn)。直到1999年Oyama M等[2]通過文獻復習的方式將DSH做了全面的介紹，他們通過對185例文獻報道DSH患者進行復習發(fā)現(xiàn)該病屬于常染色體顯性遺傳，且73%DSH患者于6歲以前發(fā)病，83%患者首次出現(xiàn)皮損的部位在四肢伸側(cè)，只有14%患者首次發(fā)病皮損以面部為主，但隨著皮損進展，大部分患者會出現(xiàn)面部表現(xiàn)。
DSH與著色性干皮病臨床表現(xiàn)具有較多的相似點，給臨床診斷帶來了困難，但2001年Ohtosi等[7]采用DNA修復技術對4例DSH患者進行鑒別診斷，證實該技術可以使DSH診斷更加精確，他們認為使用該技術可以對臨床表現(xiàn)不典型的DSH患者進行鑒別診斷，使對該病的診斷更加準確。

2致病基因DSRAD

2.1基因定位：
2.2 DSRAD基因：
3 DSRAD基因突變種類


參考文獻
[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 Lu,Zhaohui Liao,Jing Chen,Yaping Xiang,Zhiqiang Wu,Chengxin Zuo,Xianzhen Jiang,Jinhua Huang. Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria[J]. Archives of Dermatological Research, 2007,29 (07):1256-1257. .
[19]  Wang Y, Zeng Y, Murray JM,et al. Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate-activated ion channel RNA editing. J Mol Biol. 1995 Nov 24;254(2):184-95.
[20]Suzuki,N,Suzuki,T,Inagaki,K,Ito,S,Kono,M,Horikawa,T,Fujiwara,S,Ishiko,A,Matsunaga,K,Aoyama,Y,Tosaki-Ichikawa,H,Tomita,Y. Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria .J Invest Dermatol, 2009, 127 :309~311 .
[21] Goodman RA, Macbeth MR, Beal PA. ADAR proteins: structure and catalytic mechanism .Curr TopMicrobiol Immunol, 2011, 23 (4) :547-549 .
[22] Chao SC, Lee JY, Sheu HM,et al. A novel deletion mutation of the DSRAD gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria. Br J Dermatol. 2005 Nov;153(5):1064-6.
[23]  Liu Q, Liu W, Jiang L, et al. Novel mutations of the RNA- specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. J Invest Dermatol, 2004,122: 896- 9.
[24]  Zhang XJ, He PP, Li M, et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat, 2004, 23: 629- 30.

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