家族性慢性良性天疱疮一家系五例
摘要
先证者 男，48岁。因“双腋下、腹股沟水疱伴瘙痒破溃18年，糜烂加重半月”于2012年11月22日来我科门珍就诊。患者18年前无明姓诱因出现双腋下红斑、水疱，伴瘙痒，后发展至双侧腹股沟。
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2014年第1期121-122,共2页
Chinese Journal of Medical Genetics
参考文献4
-
1Burge SM. Halley-Halley disease: the clinical features, response to trealmnet and prognosis[J].Br J Dermatol,1992,126 :275-282.
-
2Chao SC, Tsai YM. Mutation analysis of ATP2C gene in Taiwan Residents patients with Hailey-Hailey disease [J]. Br J Dermatol, 2002, 146:595-600.
-
3Dobson Stone C, Fairclough R, Dunne E, et al. Halley Halley: molecular and clinical characterization of novel mulations in the ATP2CI gene[J]. J Invest DematoI,2002,118:338-343.
-
4朱亚刚,张学军,杨森.家族性慢性良性天疱疮2家系的基因突变分析[J].中国皮肤性病学杂志,2012,26(3):189-191. 被引量：7
二级参考文献19
-
1Hu Z, Bonifas JM, Beech J, et al. Mutations in ATP2C1, encodes a calcium pump,eause Hailey-Hailey disease[J]. Nat Genet,2000,24 (1) :61-65.
-
2Sudbrak R,Brown J,Dnbson-Stone C,et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump[J]. Hum Mol Genet ,2000,9(7) : 1131-1140.
-
3Chao SC,Tsai YM ,Yang MH. Mutation analysis of ATP2C1 gene in Taiwan Residents patients with ttailey-Hailey disease [J ]. Br J Dermatol. 2002,146 ( 4 ) : 595 -600.
-
4Dobson-Stone C,Fairclough R,Dunne E,et al. Hailey-Hailcy disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene[J]. J Invest Dermatol,2002,118(2) :338-343.
-
5Ikeda S,Shigihara T,Mayuzumi N,et al. Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease:intrafamilial and inteffamilial phenotype variations and lack of correlation with mutation patterns [J ]. J Invest Dermatol,2001,117(6) : 1654-1656.
-
6Yoknta K,Yasukawa K,Shimizu H. Analysis of ATP2CI gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease[J]. J Invest Dermatol, 2002,118 (3) : 550-551.
-
7Li H,Sun XK,Zhu XJ. Four novel mutations in ATP2CI found in Chinese patients with Hailey-Hailey disease[J]. Br J Dermatol,2003, 149(3) :471-474.
-
8Fairclough RJ,Lonie L,Van Baelen K,et al. Hailey-Hailey Disease: identification nf novel mutations in ATP2CI and effect of missense mutation A528P on protein expression levels[J]. J Invest Dermatol, 2004,123( 1 ) :67-71.
-
9Kitajima Y. Mechanisms of desmosome assembly and disassembly[J]. Clinical and Experimental Dermatology, 2002,27 (8) : 684-690.
-
10Cheng Y,Cheng YM,Zhao G,et al.A novel missense mutation of the ATP2C1gene in a Chinese patient with Hailey-Hailey disease[J].Biochem Biophys Res Commun,2011,406(3):420-422.
共引文献6
-
1董建光.慢性家族性良性天疱疮1例[J].中国医学文摘（皮肤科学）,2013,30(1):11-12.
-
2于娜,郑华,李珊山,刘慧博,于艳.家族性良性慢性天疱疮一家系10例[J].临床皮肤科杂志,2014,43(10):624-625. 被引量：1
-
3张启国,蔡良奇,黄一锦.中国慢性家族性良性天疱疮ATP2C1基因新的杂合无义突变一家系报告[J].中国皮肤性病学杂志,2015,29(12):1213-1215. 被引量：2
-
4王句斐,夏莉,汪京峡,王立鹏,李乐,梁莉,王佳薇.慢性家族性良性天疱疮1家系[J].宁夏医科大学学报,2017,39(3):361-363.
-
5张佳音.中西医结合治疗慢性家族性良性天疱疮1例[J].现代养生,2019,0(4):58-59.
-
6赵静,高英,吴建华.家族性良性慢性天疱疮一家系及ATP2C1基因突变分析[J].第二军医大学学报,2019,40(5):583-586.
-
1张韡,刘排,孙建方.色素性痒疹1例[J].临床皮肤科杂志,2012,41(6):375-375. 被引量：2
-
2陈有仁,路涛,江耀睦.着色性干皮病1例[J].中国麻风皮肤病杂志,2005,21(4):310-310.
-
3禚相同,禚洪岩,芦衍浩,任相录.单侧带状扁平苔藓1例报告[J].中国麻风皮肤病杂志,2002,18(2):166-167.
-
4陈静,李干群,黄进华,罗敏.瘤型麻风误诊为变应性皮肤血管炎1例[J].中国皮肤性病学杂志,2003,17(4):282-282. 被引量：3
-
5刘青林,付鸿.芩蓝龙花汤治疗带状疱疹体会[J].内蒙古中医药,2012,31(19):20-20.
-
6杨洪,朱建华,钟敏.曲安西龙等治愈重度结节性痒疹1例[J].中国皮肤性病学杂志,2005,19(12):765-766. 被引量：2
-
7樊浩东.早期胎传梅毒一例[J].九江医学,2001,16(2):122-122.
-
8吴文凯.自血疗法配合药物治疗亚急性湿疹的临床观察[J].湖北中医杂志,2009,31(12):53-54. 被引量：4
-
9李颂,涂平.浆细胞性龟头炎一例[J].中华皮肤科杂志,2002,35(4):314-314. 被引量：2
-
10孟凡海,王雪萍,吴满平,茅剑强,翁燕琼,付海英.血管萎缩性皮肤异色病一例[J].中华皮肤科杂志,2008,41(3):169-169.
