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先天性角化不良1例 被引量：3

A Case of Dyskeratosis Congenita
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摘要 患者男,21岁,具有临床三联征:全身皮肤网状色素沉着,甲营养不良和口腔黏膜白斑。并发头发稀少、干枯,有龋齿。腕部皮肤色素沉着区皮损活检示:角化过度、角化不全,基底细胞液化变性,真皮上层较多嗜色素细胞。 A case of dyskeratosis congenita （DC） of a 21-year-old male is reported. He presented with the characteristic clinical triad of reticular pigmentation of the skin, dystrophic nails and oral lesions. In addition, sparse and withered hairs and dental caries were accompanied. Skin biopsy specimen from hyperpigmented areas of wrist shows hyperkeratosis, parakeratosis, liquifaction degeneration of basal cells and many melanophages in superficial dermis.
作者 王杨 汪治国 阮英
机构地区 湖北省咸宁市中心医院皮肤科 湖北省咸宁学院皮肤科教研室
出处 《中国皮肤性病学杂志》 CAS 北大核心 2010年第6期549-550,共2页 The Chinese Journal of Dermatovenereology
关键词 角化不良 先天性 Dyskeratosis Congenita
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9

  • 1Marrone A,Dokal I.Dyskeratosis congenita:molecular insights into telomerase function,ageing and cancer[J].Expert Rev Mol Med,2004,6(26):1-23.
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  • 5常小丽,张学军,杨森.先天性角化不良研究新进展[J].中国皮肤性病学杂志,2006,20(9):566-567. 被引量：4
  • 6Knight S,Vulliamy T,Copplestone A,et al.Dyskeratosis congenita(DC) registry:identi-fication of new features of DC[J].Br J Haematol,1998,103(4):990-996.
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二级参考文献36

  • 1Dokal. Dyskeratosis congenita in all its forms. Br J Haematology, 2000,110(4):768-779.
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  • 3Knight SW, Vulliamy T, Copplestone A, et al. Dyskeratosis congenita(DC) registry: identification of new features of DC. Br J Haematol, 1998,103(4):990-996.
  • 4Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conservrd gene with putative necleolaefunctions. Nature Genet, 1998,19(1):32-38.
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  • 7Jiang WD, Middleton K, Yoon HT, et al. An essential yeast ptotein,Cbf5p, binds in-vitro to centeomeres and microtubules. Mol Cell Biol, 1993,13(8):4884-4893.
  • 8Philips B, Billin AN, Cadwell V, et al. The Nop60 B gene of drosophila encodes an essential nucleolar protein that functions in yeast. Mol Genet, 1998,260(1):20-29.
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  • 10Knight SW, Heiss NS, Vulliamy TJ, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.Am J Hum Genet, 1999,65(1):50-58.

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中国皮肤性病学杂志
2010年 第6期

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