Weber-Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits

被引:4
作者
Chiang, Y-Y. [2 ]
Chao, S-C. [4 ]
Chen, W.-Y. [3 ]
Lee, W-R. [1 ]
Wang, K-H. [1 ]
机构
[1] Taipei Med Univ Hosp, Dept Dermatol, Taipei, Taiwan
[2] Taipei Med Univ, Wan Fang Hosp, Dept Dermatol, Taipei, Taiwan
[3] Taipei Med Univ, Wan Fang Hosp, Dept Pathol, Taipei, Taiwan
[4] Natl Cheng Kung Univ Hosp, Dept Dermatol, Tainan 70428, Taiwan
关键词
amyloid; epidermolysis bullosa simplex; keratin; 5; novel mutation; Weber-Cockayne;
D O I
10.1111/j.1365-2133.2008.08801.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
[No abstract available]
引用
收藏
页码:1370 / 1372
页数:3
相关论文
共 6 条
[1]   A study of cytokeratin profiles in localized cutaneous amyloids [J].
Chang, YT ;
Liu, HN ;
Wang, WJ ;
Lee, DD ;
Tsai, SF .
ARCHIVES OF DERMATOLOGICAL RESEARCH, 2004, 296 (02) :83-88
[2]   Epidermolysis bullosa simplex in Israel - Clinical and genetic features [J].
Ciubotaru, D ;
Bergman, R ;
Baty, D ;
Indelman, M ;
Pfendner, E ;
Petronius, D ;
Moualem, H ;
Kanaan, M ;
Ben Amitai, D ;
McLean, WHI ;
Uitto, J ;
Sprecher, E .
ARCHIVES OF DERMATOLOGY, 2003, 139 (04) :498-505
[3]  
Eswaramoorthy V., 1999, Journal of Dermatology (Tokyo), V26, P305
[4]  
KANTOR GR, 1985, CLEVELAND CLIN Q, V52, P425
[5]   The human intermediate filament database: Comprehensive information on a gene family involved in many human diseases [J].
Szeverenyi, Ildiko ;
Cassidy, Andrew J. ;
Chung, Cheuk Wang ;
Lee, Bernett Tk. ;
Common, John E. A. ;
Ogg, Stephen C. ;
Chen, Huiiia ;
Sim, Shu Yin ;
Goh, Walter L. R. ;
Ng, Kee Woei ;
Simpson, John A. ;
Chee, Li Lian ;
Eng, Goi Hui ;
Li, Bin ;
Lunny, Declan P. ;
Chuon, Danny ;
Venkatesh, Aparna ;
Khoo, Kian Hoe ;
McLean, W. H. Irwin ;
Lim, Yun Ping ;
Lane, E. Birgitte .
HUMAN MUTATION, 2008, 29 (03) :351-360
[6]  
Venkataram M N, 2001, Australas J Dermatol, V42, P176, DOI 10.1046/j.1440-0960.2001.00514.x