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结节性硬化症1例 被引量：2

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摘要 1临床资料 患者女，23岁，颜面、躯干及甲周先后起疹20余年。患者出生时腰骶部出现数个大小不等的皮疹，柔软，肤色，高出皮面，由于无自觉症状，未予重视，之后皮疹渐增多，部分融合成斑块。
作者 张莉 夏莉 汪京峡 陈阳
机构地区 宁夏医科大学 宁夏医科大学总医院皮肤科
出处 《中国皮肤性病学杂志》 CAS 北大核心 2014年第3期319-320,共2页 The Chinese Journal of Dermatovenereology
关键词 结节性硬化症 临床资料 自觉症状 腰骶部 出生时 患者 皮疹
分类号 R758.5 [医药卫生—皮肤病学与性病学]
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参考文献6

  • 1赵辨.临床皮肤病学[M].南京:江苏科学技术出版社,2010.1513-1514.
  • 2Maki Y, Enomoto T Manavama H,et al. Compuled tomography in tuber- ous sclerosis- with special reference to relation between clinieal manila's- rations and CT findings [ J ]. Brain & Development, 1979, 1 ( 1 ) :39 -48.
  • 3Michael H. Kohrman. Emerging treatments in the management of tuber- ous sclerosis complex [ J ]. Pediatric Neurology 2012,46 ( 5 ) : 267 - 275.
  • 4李卉,杨森,张学军.结节性硬化症临床研究[J].国外医学（皮肤性病学分册）,2005,31(2):96-98. 被引量：19
  • 5Konishi Y, lto M, Okuno T, et al. Tuberous sclerosis:early neu-rologic manifestations and CT features in 18 patients[ J ]. Brain & Development, 1979,1(1) :31 -37.
  • 6Jabir S, AI-Hyassat S. Histologica d agnosis of cardiac lipoma in an adult with tuberous sclerosis [ J ]. BMJ Case Reports, 2013,10 ( 1136 ) : 1 - 2.

二级参考文献25

  • 1O'Callaghan FJ, Clarke AC, Joffe H, et al. Tuberous sclerosis complex and Wolff-Parkinson-White syndrome. Arch Dis Child, 1998,78 : 159 - 162.
  • 2Harrison JE, O'Callaghan FJ, Hancock E, et al. Cognitive deficits in normally intelligent patients with tuberous sclerosis. Am J Med Genet,1999, 88:642 -646.
  • 3Jones AC, Shyamsundar MM, Thomas MW, et al. Comprehensive mutation analysis of TSCI and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet, 1999, 64:1305 - 1315.
  • 4Ewalt DH, Sheffield E, Sparagana SP,et al. Renal lesion growth in children with tuberous sclerosis complex. J Urol, 1998, 160:141.
  • 5Jimenez RE, Eble JN, Reuter VE, et al. Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases. Mod Pathol, 2001, 14:157 - 163.
  • 6Henske EP, Ao X, Short MP, et al. Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal anglomyolipomas. Mod Pathol, 1998, 11:665 -668.
  • 7Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSCI, disease in multiple organs. Am J Hum Genet, 2001,68:64 - 80.
  • 8O'Callaghan FJ, Noakes M, Osborne JP. Renal anglomyolipomata and learning difficulty in tuberous sclerosis complex. J Med Genet, 2000,37:156- 157.
  • 9Strizheva GD, Carsillo T, Kruger WD, et al. The spectrum of mutations in TSCI and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. Am J Respir Crit Care Med, 2001, 163:253.
  • 10Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax, 2000, 55 : 1052 - 1057.

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中国皮肤性病学杂志
2014年 第3期

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