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Proteus综合征1例 被引量：1

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摘要 Proteus综合征（Proteus syndrome，PS）是一种罕见、散发而复杂的先天性错构瘤类疾病，与基因变异有关，表现为皮肤、骨骼及软组织等多种组织非对称性、不规则的过度生长，脑回状结缔组织痣、表皮痣、血管畸形及脂肪组织异常、外生骨疣、脊柱侧凸等。
作者 王波 何勤 龙义国 李伟泽 温杰
机构地区 贵阳医学院附属医院放射科 贵阳医学院附属医院皮肤性病科 贵阳医学院附属医院病理科
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2013年第6期368-369,共2页 Journal of Clinical Dermatology
关键词 PROTEUS综合征
分类号 R758.59 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献2

  • 1Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome[J]. Birth Defects Orig Artic, 1979, 15(5B): 291-296.
  • 2罗素菊,冯义国,彭振辉.Proteus综合征[J].国际皮肤性病学杂志,2006,32(3):159-161. 被引量：7

二级参考文献14

  • 1Cohen MM Jr,Turner JT,Biesecker LG.Proteus syndrome:misdiagnosis with PTEN mutations.Am J Med Genet A,2003,122:323-324.
  • 2Turner JT,Cohen MM Jr,Biesecker LG.Reassessment of the Proteus syndrome literature:application of diagnostic criteria to published cases.Am J Med Genet A,2004,130:111-122.
  • 3Twede JV,Turner JT,Biesecker LG,et al.Evolution of skin lesions in Proteus syndrome.J Am Acad Dermatol,2005,52:834.
  • 4Cohen MM Jr.Causes of premature death in Proteus syndrome.Am J Med Genet,2001,101:1-3.
  • 5Cohen MM Jr.Proteus syndrome:an update.Am J Med Genet C Semin Med Genet,2005,137:38-52.
  • 6Nguyen D,Turner JT,Olsen C,et al.Cutaneous manifestations of proteus syndrome:correlations with general clinical severity.Arch Dermatol,2004,140:947-953.
  • 7Jamis-Dow CA,Turner J,Biesecker LG,et al.Radiologic manifestations of Proteus syndrome.Radiographics,2004,24:1051-1068.
  • 8Cohen MM Jr.Vasculogenesis,angiogenesis,hemangiomas,and vascular malformations.Am J Med Genet,2002,108:265-274.
  • 9Biesecker LG,Happle R,Mulliken JB,et al.Proteus syndrome:diagnostic criteria,differential diagnosis,and patient evaluation.Am J Med Genet,1999,84:389-395.
  • 10Newman B,Urbach AH,Orenstein D,et al.Proteus syndrome:emphasis on the pulmonary manifestations.Pediatr Radiol,1994,24:189-193.

共引文献6

同被引文献26

  • 1Lindhurst MJ,Wang JA,Bloomhardt HM,et al.AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome[J].J Med Genet,2013,24(10):1038.
  • 2Thiffault I,Schwartz CE,Der Kaloustian V,et al.Mutation analysis of the tumor suppressor PTEN and the Glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome[J].Am J Med Genet,2004,130A(2):123-127.
  • 3Turner JT,Cohen MM Jr,Biesecker LG.A reassessment of the Proteus syndrome literature:application of diagnostic criteria on published cases[J].Am J Med Genet,2004,130A(2):111-122.
  • 4Cohen Jr MM,Hayden PW.A newly recognized hamartoma tous syndrome[J].Birth Defects Orig Artic Ser,1979,15(5B):291-296.
  • 5Biesecker LG,Peters KF,Darling TN,et al.Clinical differentiation between Proteus syndrome and hemihyperplasia:description of a distinct form of hemihyperplasia[J].Am J Med Genet,1998,79(4):311-318.
  • 6Cohen MM Jr.Proteus syndrome // Cohen MM Jr,Neri G,Weksberg R,editors.Overgrowth syndromes,Chapter 9[M].New York:Oxford University Press,2002:75-110.
  • 7Jamis Dow CA,Turner J,Biesecker LG,et al.Radiologic manifestations of Proteus syndrome[J].RadioGraphics,2004,24(4):1051-1068.
  • 8Biesecker L.The challenges of Proteus syndrome:diagnosis and management[J].Eur J Hum Gene,2006,14(11):1151-1157.
  • 9Cohen MM Jr.Putting a foot in one's mouth or putting a foot down:nonspecificity vs.specificity of the connective tissue nevus in Proteus syndrome[J].Proc Greenwood Genet Ctr,1995,14(1):11-13.
  • 10Nguyen D,Turner JT,Olsen C,et al.Cutaneous manifestations of proteus syndrome:correlations with general clinical severity[J].Arch Dermatol,2004,140(8):947-953.

引证文献1

临床皮肤科杂志
2013年 第6期

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