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先天性角化不良

A case of dyskeratosis congenita
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摘要 报告1例先天性角化不良。患者男,27岁。全身皮肤出现网状色素沉着20年,部分指、趾甲营养不良和唇、颊黏膜白斑17年。此外还并发牙龈增生,头发稀少、干枯,有龋齿,轻度智力低下。 A case of dyskeratosis congenita(DC) is reported. A 27-year-old man presented with generalized hyperpigmented macules and patches in reticulated or mottled pattern for 20 years, dystrophy of some fingernails and toenails, and mucosal leukoplakia on lips for 17 years. In addition, sparse and withered hairs, dental caries, and mild mental retardation were accompanied.
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2008年第6期379-380,共2页 Journal of Clinical Dermatology
关键词 角化不良 先天性 dyskeratosis congenita
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参考文献4

  • 1Heiss NS, Knight SW, Vulliamy Tj, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions[J]. Nat Genet, 1998, 19(1): 32-38.
  • 2Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenital [J]. Nature, 1999, 402(6761): 551-555.
  • 3马东来,王家璧,王宏伟.先天性角化不良6例[J].临床皮肤科杂志,2002,31(11):712-714. 被引量:8
  • 4Knight S, Vulliamy T, Copplestone A, et al. Dyskeratosis congenita (DC) registry: identification of new features of DC[J]. Br J Haematol, 1998, 103(4): 990-996.

二级参考文献5

  • 1Dokal I. Dyskeratosis congenita in all its forms[J]. Br J Haematol,2000, 110(4):768-779.
  • 2Sehgal VN, Thappa DM, Sharma RC, et al. Dyskeratosis con genita: a case report[J]. J Dermatol, 1993, 20(1):56-58.
  • 3Joshi RK, Atukorala DN, Abanmi A, et al. Dyskeratosis congenita in a female[J]. Br J Dermatol, 1994, 130(4):520-522.
  • 4Dokal I. Dyskeratosis congenita: recent advances and future direc tions[J]. J Pediatr Hematol Oncol, 1999, 21(5):344-350.
  • 5Phillips RJ, Judge M, Webb D, et al. Dyskeratosis congenita: de lay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation[J]. Br J Dermatol, 1992, 127(3):278-280.

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