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Netherton综合征 被引量：3

A case of Netherton's syndrome
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摘要 报告1例Netherton综合征。患者女,21岁。出生20余天全身皮肤即出现干燥、红斑、脱屑、散在脓疱,伴渗出。口周、眼周皮纹加深,呈放射状。头发干燥无光泽,长至寸许时即折断,眉毛稀疏。光镜下眉毛及头发呈竹节状。皮损组织病理改变类似银屑病。血常规中嗜酸性粒细胞计数增高,血清IgE增高。对牛肉和羊毛过敏。结合临床表现、实验室检查等。 A 21-year-old Tibetan female patient with Netherton＇s syndrome is reported. She presented with erythema, scales, and pustulae for more than 20 years. Her hairs presented as trichorrhexis invaginata under light microscope, and the histopathological feature was the same as psoriasis. The eosinophiles counts and IgE level in sera rose and she is allergic to beef and woolen.
作者 闫薇 薛晓东 李薇 张桂蓉 尹斌 蒋献 熊琳
机构地区 四川大学华西医院皮肤科 成都中医药大学附属医院皮肤科
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2010年第2期102-104,共3页 Journal of Clinical Dermatology
关键词 Netherton综合征 Netherton＇ s syndrome
分类号 R758.59 [医药卫生—皮肤病学与性病学]
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参考文献10

  • 1Greene 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.
  • 2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.
  • 3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
  • 4袁肖海,王学民.Netherton综合征1例[J].临床皮肤科杂志,2004,33(3):162-163. 被引量：5
  • 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.

二级参考文献15

  • 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.
  • 6Descargues P,Deraison C,Bonnart C,et al.Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity[J].Nat Genet,2005,37(1):56-65.
  • 7Hausser 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.
  • 8Chavanas 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.
  • 9Chavanas S,Garner C,Bodemer C,et al.Localization of the Netherton syndrome gene to chromosome 5q32,by linkage analysis and homozygosity mapping[J].Am J Hum Genet,2000,66(3):914-921.
  • 10Sprecher E,Chavanas S,DiGiovanna JJ,et al.The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome:implications for mutation detection and first case of prenatal diagnosis[J].J Invest Dermatol,2001,117(2):179-187.

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临床皮肤科杂志
2010年 第2期

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