面部首现皮损的遗传性对称性色素异常症1例、家系3例报道
摘要
1临床资料
患者女,19岁。因面部及四肢色素沉着及色素减退斑16年于2008年8月20日就诊于我院。患者3岁时面部出现散在色素沉着及色素减退斑,随年龄增长,皮损逐渐增多.渐蔓延至四肢,扩大成网状。夏季明显,冬季减轻,无明显自觉症状。曾多次以雀斑及白癜风治疗,效果不佳。父母非近亲结婚,其外祖父及母亲有相同病史,首发部位也为面部,见图1。
出处
《中国中西医结合皮肤性病学杂志》
CAS
2009年第6期381-381,共1页
Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine
参考文献4
-
1Oyama M, Shimizu H, Ohata Y, et al. Dyschromatosis Symmetrica hereditaria (reticulate acropigmentation of Dohi): Report of a Japanese family with the condition and a literature review of 185 cases[J]. Br J Dermatol, 1999,140:491-496.
-
2Zhang XJ, Gao M, Li M, et al. Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11 - 1q21 [J]. J Invest Dermatol, 2003, 120:776 -780.
-
3Miyamura Y, Suzukit, 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, 73:693 -699.
-
4姜祎群,孙建方.遗传性对称性色素异常症[J].国外医学(皮肤性病学分册),2004,30(3):161-163. 被引量:10
二级参考文献21
-
1Oyama M, Shimizu H, Ohata Y, et al. Dyschromatosis symmetrica hereditaria ( reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol, 1999, 140:491-496.
-
2Ohtoshi E, Matsunura 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: 162 - 168.
-
3Rapic-Otrin V, Navazza V, Nardo T, et al. True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.Hum Mol Genet, 2003, 12:1507 -1522.
-
4Tojyo K, Hattori T, Sekijima Y,et al. A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis. Rinsho Shinkeigaku,2001, 41: 299 -305.
-
5Schnur RE, Heymann WR. Reticulate hyperpigmentation. Semin Cutan Med Surg, 1997, 16:72 -80.
-
6Alfadley A, Al Ajlan A, Hainau B, et al. Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. J Am Acad Dermatol, 2000, 43: 113 - 117.
-
7Xing QH, Wang MT, Chen XD, et al. A gene locus responsible for dyschromatosis symmetrica hereditaria ( DSH ) maps to chromosome
-
8Patrizi A, Manneschi V, Pini A, et al. Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report.Acta Derm Venereol, 1994, 74:135 -137.
-
9Danese P, Zanca A, Bertazzoni MG. Familial reticulate acropigmentation of Dohi. J Am Acad Dermatol, 1997, 37:884 -886.
-
10Hata S, Yokomi I. Density of dopa-positive melanocytes in dyschromatosis symmetrica hereditaria. Dermatologica, 1985, 171: 27 -29.
共引文献9
-
1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
-
2尹兴平,夏隆庆.遗传性对称性色素异常症一家系报道[J].中国麻风皮肤病杂志,2006,22(1):72-73.
-
3姜祎群,曾学思,韩永智,徐秀莲,孙建方.弥漫性色素沉着伴点状色素减退三例:一种新的色素性疾病?[J].中华皮肤科杂志,2007,40(2):107-109. 被引量:4
-
4李秀丽,顾小萍,林华,高飞.遗传性对称性色素异常症一家系六例[J].中华医学遗传学杂志,2008,25(4):489-489. 被引量:1
-
5李慧芳.遗传性对称性色素异常症2例及家系调查[J].中华实用诊断与治疗杂志,2009,23(6):579-580.
-
6李诚让,孙心君,张彩萍,马一平,崔盘根.遗传性对称性色素异常症一家系基因检测[J].国际皮肤性病学杂志,2009,35(6):339-340.
-
7姜祎群,陈浩,关杨,孙建方,曾学思.遗传性对称性色素异常症一家系DSRAD基因的新突变[J].中国麻风皮肤病杂志,2011,27(1):3-5. 被引量:1
-
8李俊峰,马俊平,南海峰,张雪莲.遗传性对称性色素异常症及其家系调查[J].中国麻风皮肤病杂志,2012,28(1):58-59.
-
9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李东霞.以面部为首发部位的急性痘疮样苔藓样糠疹一例[J].实用皮肤病学杂志,2013,6(1):49-50. 被引量:1
-
2莫文件.银屑病的首发症状和部位的统计分析[J].广西医学,2009,31(9):1292-1293.
-
3栾红,姜丽亚,许俊龙,路云环.泛发性毛囊角化病1例[J].中国皮肤性病学杂志,2011,25(1):74-74. 被引量:1
-
4吴满平,茅剑强,金刚石.儿童瘤型麻风1例[J].中国麻风皮肤病杂志,2008,24(5):365-365.
-
5翟琳莉,张红,江丽.弥漫性掌跖角化症一家系调查[J].临床皮肤科杂志,2007,36(5):313-313.
-
6张丽丽,窄秀凤,周爱民.浅表播散型汗孔角化病1例[J].临床皮肤科杂志,2011,40(10):624-625.
-
7刘江波,张杏平,李明,李诚让.泛发性带状疱疹中文文献meta分析[J].岭南皮肤性病科杂志,2007,14(3):145-147. 被引量:13
-
8李莉,周再高.念珠状毛发1例[J].临床皮肤科杂志,2005,34(9):598-598.
-
9要想确定一个年轻人是否会脱发,看看他的外祖父即可,是这样吗?[J].Newton-科学世界,2005(3):91-91.
-
10邓伦旭.非特殊类型湿疹临床相关因素分析[J].中国医疗前沿,2012,7(7):65-65.