摘要
先天性厚甲症是一罕见的遗传性外胚叶缺陷性疾病 ,主要表现为甲过度角化和营养不良 ,掌跖角化、多汗 ,毛囊角化及粘膜白斑和多发性脂囊瘤等。发病机制至今尚未完全清楚。现就先天性厚甲症的分型、临床表现。
出处
《国外医学（皮肤性病学分册）》
2002年第6期349-353,共5页
Foreign Medical Sciences(Section of Dermatology and Venereology)
参考文献22
-
1Odom RB, et al. Andrews'diseases of the skin clinical dermatology. 9th ed, Harcourt Asis: Saunders,2001.718 - 721.
-
2Feinstein A, Friedman J, Schewach - Millet M. Pachyonychia congenita. J Am Acad Dermatol, 1988, 19(4) :705 -711.
-
3Mouaci- Midoun N, Cambiaghi S, Abimelec P. Pachyonychia congenita tarda. J Am Acad Dermatol, 1996, 35(2 Pt 2) :334 -335.
-
4Hannaford RS, Stapleton K. Pachyonychia congenita tarda. Australas J Dermatol, 2000, 41 (3) :175 -177.
-
5van Steensel MA, Smith FJ, Steijlen PM. A new type of pachyonychia congenita. Eur J Dermatol, 2001, 11 ( 3 ): 188 - 190.
-
6Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype - genotype correlation. Br J Dermatol, 1999, 140(5) :815 -828.
-
7McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17mutations cause pachyonychia congenita. Nat Genet, 1995,9 (3) :273-278.
-
8Smith FJ, McKusick VA, Nielsen K, et al. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Prenat Diagn, 1999, 19(10) :941 -946.
-
9Smith FJ, Del Monaco M, Steijlen PM, et al. Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. Br J Dermatol, 1999, 141 (6): 1010 - 1016.
-
10Bowden PE, Haley JL, Kansky A,et al. Mutation of a type Ⅱ keratin gene (K6a) in pachyonychia congenita. Nat Genet, 1995 , 10 ( 3 ):363 - 365.
同被引文献8
-
1康晓静,孙淼,杨威,于敏,鞠强,罗会元,夏隆庆,张学.KRT6A基因I462S新生突变导致Ⅰ型先天性厚甲症[J].中华医学杂志,2004,84(16):1344-1347. 被引量：5
-
2McLean WH,Rugg EL,hunny DP,et al.Keratin 16 and keratin 17 mutations cause pachyonychia congenital[J].Nat Genet,1995.9(3):273-278.
-
3Smith FJ,Jonlanan MF,van Goor H,et al.A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2[J].Hum Mol Genet,1998,7(7):1143-1148.
-
4吕永梅,康瑞花,常建民,孙良丹,崔勇,杜文辉,周伏圣,方巧云,杜卫东,杨森,张学军.先天性厚甲症-1型基因突变分析[J].安徽医科大学学报,2008,43(2):201-205. 被引量：4
-
5杨宝琦,张法义,周桂芝,张福仁.先天性厚甲症1例[J].临床皮肤科杂志,2008,37(11):737-738. 被引量：3
-
6张士德,林振兴,张正华,刘晶晶,田伟,赵敬军.先天性厚甲症Ⅱ型一家系KRT17基因突变研究[J].中华医学遗传学杂志,2011,28(1):6-9. 被引量：5
-
7刘小丽,李宏文,陈露珠,石娴,张彩娥,邓云华,陈兴平.先天性厚甲症一家系的KRT基因突变分析[J].实用皮肤病学杂志,2014,7(6):414-416. 被引量：4
-
8胡海友,王忠永,张玉杰,董大群.Ⅱ型先天性厚甲症1例[J].临床皮肤科杂志,2015,44(7):448-449. 被引量：1
-
1张峥,梁燕华,杨森,张学军.先天性厚甲症遗传学研究进展[J].中国皮肤性病学杂志,2008,22(3):179-181. 被引量：5
-
2康晓静,辛燕,石继海,鞠强,夏隆庆.先天性厚甲症2家系8例报道[J].中国麻风皮肤病杂志,2003,19(5):480-482. 被引量：2
-
3角化性皮肤病[J].中国医学文摘（皮肤科学）,2003,0(1):31-31.
-
4王家璧,高孟林,文世骏,王勉镜,叶青,张潜娜,龚卓.血卟啉衍生物-激光治疗白色角化病及粘膜白斑的观察[J].中国皮肤性病学杂志,1990,4(3):152-153.
-
5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
-
6陈霞琳.艾滋病眼部并发症7例临床分析[J].中国临床研究,2013,26(2):164-164.
-
7张蕾,王莉,热合曼.古丽苏玛依.新生儿色素失禁症1例[J].新疆医科大学学报,2005,28(6):518-518.
-
8杨海平,徐丽霞,顾恒.白癜风病因学研究现状[J].中国美容医学,2009,18(5):745-747. 被引量：8
-
9李景卫,尹兴平,夏隆庆.弥漫性掌跖角化病[J].国外医学（皮肤性病学分册）,2005,31(2):87-89. 被引量：5
-
10先天性皮肤病[J].国外科技资料目录（医药卫生）,2000(10):181-181.
