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变形综合征

Proteus syndrome:a case report and literature review
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摘要 报告1例变形综合征。患者男,42岁,具有偏侧肥大、巨趾、脊柱侧凸、线状表皮痣、淋巴管瘤等变形综合征的表现。文中对该病进行文献回顾性总结及对最新诊断标准进行讨论。 Here a case of Proteus syndrome is reported. A forty-two year old male presented with hemihypertrophy, macrodactyly, scoliosis, linear epidermal nevus and lymphangioma. The literature review and the new standard of diagnosis were introduced.
作者 李萌萌 郭在培 陈涛 焦晓燕 张宇虹
机构地区 四川大学华西医院皮肤性病科
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2012年第9期539-541,共3页 Journal of Clinical Dermatology
关键词 变形综合征:诊断标准 Proteus syndrome standard of diagnosis
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10

  • 1Cohen MM, Hayden PW. A newly recognized hamartomatous syn- drome[J]. Birth Defects Orig Artic Ser, 1979, 15: 291-296.
  • 2Wiedemann HR, Bnrgio GR, Aldenhoff P, et al. The Proteus syndrome[J]. Eur J Pediatr, 1983, 140(1): 5-12.
  • 3Samlaska CP, Levin SW, James WD, et al. Proteus syndrome (Review)[J]. Arch Dermatol, 1989,125(8): 1109-1114.
  • 4马东来,左亚刚,郑和义,王宝玺.Proteus综合征1例[J].临床皮肤科杂志,2005,34(4):205-207. 被引量：5
  • 5Ttirk CY, Gtiney A, Oner M, et al. An unusual initial presenta- tion of Proteus syndrome:macrosyndactyly[J]. Eklem Hastalik Cer- rahisi, 2011, 22(1): 56-59.
  • 6Yoshiaki Sakamoto, Hideo Nakajima, Kazuo Kishi, et al. Man- agement of Craniofacial Hyperostosis in Proteus Syndrome [J]. J Craniofac Surg, 2010, 21: 414-418.
  • 7Abdulah S, Haflah NH, Sapuan J, et al. A case of dispropor- tionate macrodactyly or a mild form of Proteus syndrome? A in- teresting case[J]. Acta Medica (Hradec Krdlov6), 2010, 53(4): 243 -246.
  • 8Irion KL, Hoeehegger B, Marehiori E, et al. Proteus syndrome high-resolution CT and CT pulmonary densitovolumetry findings [J]. J Thorae Imaging, 2009, 24(1): 45-48.
  • 9Yoshifumi Nakayama,Shinichi Kusuda,Naoki Nagata,Koji Yamaguchi.Excision of a large abdominal wall lipoma improved bowel passage in a Proteus syndrome patient[J].World Journal of Gastroenterology,2009,15(26):3312-3314. 被引量：1
  • 10Turner JT, Cohen MM Jr, Bieseeker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases [J]. Am J Med Genet A, 2004, 130A (2): 111- 122.

二级参考文献22

  • 1Cohen MM Jr,Hayden PW.A newly recognized hamartomatous syndrome.Birth Defects Orig Artic Ser 1979; 15:291-296.
  • 2Wiedemann HR,Burgio GR,Aldenhoff P,Kunze J,Kaufmann HJ,Schirg E.The proteus syndrome.Partial gigantism of the hands and/or feet,nevi,hemihypertrophy,subcutaneous tumors,macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.Eur J Pediatr 1983; 140:5-12.
  • 3Biesecker LG,Happle R,Mulliken JB,Weksberg R,Graham JM Jr,Viljoen DL,Cohen MM Jr.Proteus syndrome:diagnostic criteria,differential diagnosis,and patient evaluation.Am J Med Genet 1999; 84:389-395.
  • 4Hotamisligil GS.Proteus syndrome and hamartoses with overgrowth.Dysmorphol Clin Genet 1990; 4:87.
  • 5Yasuda H,Yamamoto O,Hirokawa H,Asahi M,Kashimura M,Sakai A.Proteus syndrome.Dermatology 2001; 203:180-184.
  • 6Hagari Y,Aso M,Shimao S,Okano T,Kurimasa A,Takeshita K.Proteus syndrome:report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome.J Dermatol 1992; 19:477-480.
  • 7Katayama M,Imafuku S,Imayama S,Nakayama J,Hori Y.Two cases of Proteus syndrome characterized by verrucous skin lesions on the soles (abstract in English).Nishinihon J Dermatol 1992; 54:1067.
  • 8Miura H,Uchida Y,Ihara K,Sugioka Y.Macrodactyly in Proteus syndrome.J Hand Surg Br 1993; 18:308-309.
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  • 10Zhou X,Hampel H,Thiele H,Gorlin RJ,Hennekam RC,Parisi M,Winter RM,Eng C.Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.Lancet 2001; 358:210-211.

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临床皮肤科杂志
2012年 第9期

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