Kindler综合征研究进展
被引量:1
Research progress of Kindler syndrome
摘要
Kindler综合征是一种常染色体隐性遗传性皮肤病,是第一个由于肌动蛋白细胞骨架系统-细胞外基质连接缺陷导致的皮肤病。为遗传性大疱表皮松解症的一种新的类型。该文对其临床表现、诊断和鉴别诊断以及遗传学研究进展进行综述。
出处
《临床皮肤科杂志》
CAS
CSCD
北大核心
2010年第8期537-539,共3页
Journal of Clinical Dermatology
参考文献25
-
1Lai-Cheong JE,Tanaka A,Hawche G,et al.Kindler syndrome:a focal adhesion genodermatosis[J].Br J Dermatol,2009,160(2):233-242.
-
2Kindler T.Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy[J].Br J Dermatol,1954,66(3):104-111.
-
3Shimizu H,Sato M,Ban M,et al.Immunohistochemical,ultrastructural,and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa[J].Arch Dermatol,1997,133(9):1111-1117.
-
4Lanschuetzer CM,Muss WH,Emberger M,et al.Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder[J].J Cutan Pathol,2003,30(9):553-560.
-
5Siegel DH,Ashton GH,Penagos HG,et al.Loss of kindlin-1,a human homolog of the Caenorhabditis elegans actin-extracellularmatrix linker protein UNC-112,causes Kindler syndrome[J].Am J Hum Genet,2003,73(1):174-187.
-
6Jobard F,Bouadjar B,Caux F,et al.Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome[J].Hum Mol Genet,2003,12(8):925-935.
-
7Fine JD,Eady RA,Bauer EA,et al.The classification of inherited epidermolysis bullosa (EB):Report of the Third International Consensus Meeting on Diagnosis and Classification of EB[J].J Am Acad Dermatol,2008,58(6):931-950.
-
8Fassihi H,Wong T,Wessagowit V,et al.Target proteins in inherited and acquired blistering skin disorders[J].Clin Exp Dermatol,2006,31(2):252-259.
-
9White SJ,McLean WH.Kindler surprise:mutations in a novel actin-associated protein cause Kindler syndrome[J].J Dermatol Sci,2005,38(3):169-175.
-
10Ashton GH.Kindler syndrome[J].Clin Exp Dermatol,2004,29(2):116-121.
二级引证文献3
-
1刘静,朱静.Bart综合征一例基因检测[J].中国麻风皮肤病杂志,2021,37(2):92-95.
-
2陈晶晶,汪希珂,崔玉霞,刘征.LAMA3基因突变导致婴儿Herlitz型交界型大疱性表皮松解症1例[J].贵州医药,2021,45(7):1034-1036. 被引量:1
-
3李翠莲,刘玲,马静,祖金艳,马秀丽,孙美华,舒虹,周军.LAMA3基因新突变致喉甲皮肤综合征一家系研究[J].临床耳鼻咽喉头颈外科杂志,2022,36(3):212-216.
-
1何惟薇,胡康容,孙新芬,朱海泳,王侠生.Kindler综合征[J].临床皮肤科杂志,2011,40(12):736-738. 被引量:1
-
2Ying GAO,Jin-li BAI,Xiao-yan LIU,Yu-jin QU,Yan-yan CAO,Jian-cai WANG,Yu-wei JIN,Hong WANG,Fang SONG.A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome[J].Journal of Zhejiang University-Science B(Biomedicine & Biotechnology),2015,16(11):957-962. 被引量:2
-
3谈利.新生儿大疱表皮松解症的护理[J].小儿急救医学,1997,4(4):184-184.
-
4杨玉华.新生儿大疱性表皮松解症的护理[J].青海医药杂志,1994,24(B11):56-56.
-
5贺雅贤.中毒性大疱表皮松解症的观察与护理[J].实用医技杂志,1998,5(1):33-34.
-
6王刚.遗传性大疱性表皮松解症的最新分类[J].实用皮肤病学杂志,2008,1(3):129-130. 被引量:15
-
7许秀珍,屈沛,张淑慧.营养不良性大疱表皮松解症一家系的调查[J].山西妇幼卫生,1994,5(1):18-19.
-
8周毓萍.1例药物致大疱表皮松解症患者的护理[J].南方护理学报,2002,9(3):72-72.
-
9常建民.有皮肤异色症表现的皮肤病[J].临床皮肤科杂志,2011,40(6):377-378. 被引量:6
-
10岳晓明,李禄全,余加林.新生儿鱼鳞病15例临床分析[J].重庆医学,2009,38(6):657-657. 被引量:4