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Netherton综合征1例 被引量:5

Netherton's syndrome: one case report
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摘要 报告1例Netherton综合征。患者女,43岁。患者自幼全身皮肤反复出现红斑、脱屑,严重时有渗出,伴有瘙痒。平时头发不易梳理、易断。幼时曾有哮喘史。皮损组织病理改变符合迂回线性鱼鳞病。毛发电镜检查示毛发呈竹节状,在竹节处有套叠。 A 43-year-old female had variable erythema and ichthyosiform eruptions over the entire body since her infancy. Her hairs were coarse and lusterless. She also had the history of asthma in her childhood. Histopathologic examination showed ichthyosis linearis circumflexa. Scanning electron microscopy indicated that hairs looked like 'bamboo node', swelling and invagination of the cuticle. The diagnosis was made as Netherton's syndrome.
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2004年第3期162-163,共2页 Journal of Clinical Dermatology
关键词 Netherton综合征 套叠脆发症 竹节发 Netherton's syndrome trichorrhexis invaginata bamboo hair
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参考文献5

  • 1[1]Chavanas S,Bodemer C,Rochat A,et al.Mutations in SPINK5,encoding a serine protease inhibitor,cause Netherton syndrome[J].Nat Genet,2000,25(2):141-142.
  • 2[2]Greene SL,Muller SA.Netherton's syndrome.Report of a case and review of the literature[J].J Am Acad Dermatol,1985,13(2 Pt 2):329-337.
  • 3[3]Allen A,Siegfried E,Silverman R,et al.Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome [J].Arch Dermatol,2001,137(6):747-750.
  • 4[4]Hausser I,Anton-Lamprecht I.Severe congenital generalized exfoliative erythroderma in newborns and infants:a possible sign of Netherton syndrome[J].Pediatr Dermatol,1996,13(3):183-199.
  • 5[5]Nagata T.Netherton's syndrome which responded to photochemothera py[J].Dermatologica,1980,161(1):51-56.

同被引文献39

  • 1赵邑,马志红,杨勇,杨淑霞,武玲慎,丁保玲,林志淼,王爱平,卜定方,涂平.两个Netherton综合征家系SPINK5基因突变及产物活性的检测[J].中国皮肤性病学杂志,2006,20(6):341-344. 被引量:5
  • 2汤秀英,赵邑,王书合,张烨,柴立军,涂平.一例Netherton综合征患者皮肤和毛发的电镜观察[J].电子显微学报,2006,25(6):514-517. 被引量:1
  • 3Greene SL, Muller SA. Netherton's syndrome. Report of a ease and review of the literature[J]. J Am Acad Dermatol, 1985, 13(2 Pt 2): 329-337.
  • 4麦基,卡隆赫,格兰特尔.皮肤病理学-与临床的联系[M].3版.朱学骏,孙建方,译.北京:北京大学医学出版社,2007:51-52.
  • 5Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINKS, encoding a serine protease inhibitor, cause Netherton syndrome [J]. Nat Genet, 2000, 25(2): 141-142.
  • 6Raghunath M, Tontsidou L, Oji V, et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases[J]. J Invest Dermatol, 2004, 123(3): 474-483.
  • 7Ong C, O' Toole EA, Ghali L, et al. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome[J]. Br J Dermatol, 2004, 151(6): 1253- 1257.
  • 8Carla A, Borgono, Iacovos P, et al. A potential role for multiple tissue kallikrein serine proteases in epidermal desquamation[J]. J Biol Chem, 2007, 282(6): 3640-3652.
  • 9Saif GB, Al-Khenaizan S. Netherton syndrome: successful use of topical tacrolimus and pimeerolimus in four siblings [J]. Int J Dermatol, 2007, 46(3): 290-294.
  • 10Allen A, Siegfried E, Silverman R, et al. Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome [J]. Arch Dermatol, 2001, 137(6): 747-750.

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