期刊文献+

先天性厚甲征Ⅱ型一家系6例

Six Cases of II Pachyonychia Congenita in One Family
下载PDF
导出
摘要 先证者男,22岁。自幼指(趾)甲增厚,呈褐色。10年前颈部出现粟粒大小丘疹,8年前颈部出现同样皮疹,6年前双手中指、无名指、小指的指甲变薄,后又增厚,5年前全身出现大小不等浅白色丘疹、结节,质硬,逐渐增大。诊断:先天性厚甲征Ⅱ型。
出处 《中国皮肤性病学杂志》 CAS 北大核心 2008年第8期492-493,共2页 The Chinese Journal of Dermatovenereology
  • 相关文献

参考文献9

  • 1赵辨.临床皮肤病学[M].第2版.南京:江苏科学技术出版社,1989.667.
  • 2杨国亮.皮肤病学[M].上海:上海医科大学出版社,1972:701.
  • 3MCLEAN Will, RUGG EL, LUNNY DP, et al. Keratin 16 and Keratin 17 mutations Cause paehyonyehia congenital [ J ]. Nat Cermet, 1995,9: 273 - 278.
  • 4PAUL EB, JOANNE LH, ALEKSEJK, et al. Mutation of a type 2 keratin gene( K6a ) in pachyonychia congenital [ J ]. Nat Genrt, 1995,10 : 363 - 365.
  • 5CONNORS JB, RAHIL AK, SMOTH FJD, et al. Delayed - onset paehyonyehiaa congenital associated with a novel mutation in the central 2B domain of keratin 16 [ J ]. Br J Dermatol, 2001,144 ( 5 ) : 1058 - 1062.
  • 6XIAO SX, FENY YG, REN XR, et al.A novel mutation in the seeond half of the Keratin 17 1A domain in a large pedigree with delayed - onset pachyonchia conngenita type 2 [J]. J Invest Dermatol, 2004,122 : 892 - 895.
  • 7VAN STEENSEL MAM, KOEDAM MI, SWINKELS OQ, et al. Wooly hair,premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred [ J ]. Br J Dermatol,2001,145 ( 1 ) : 157 - 161.
  • 8SMITH FJD, MEKUSICK VA, NIELSEN K, et al. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenital type 1 [J]. Prenatal Diagnosis,1999,19(10) :941 -946 .
  • 9COHEN MA, LINDEIM SR, SAUER MV. Avoiding pachyonychia congenital using oocyte donation[J]. Dermatology,1999, ( 1 ) :107 - 108.

共引文献20

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部