Epidermolysis Bullosa in Australia and New Zealand

被引:13
作者
Murrell, Dedee F. [1 ]
机构
[1] Univ New S Wales, St George Hosp, Dept Dermatol, Sydney, NSW 2217, Australia
关键词
Epidermolysis bullosa; Dystrophic epidermolysis bullosa; Epidermolysis bullosa simplex; COLLAGEN-VII; PYLORIC ATRESIA; MUTATIONS; DIAGNOSIS; EXPRESSION; SIMPLEX; PATIENT; HERLITZ; ITGB4; GENE;
D O I
10.1016/j.det.2010.02.009
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
This article describes the clinical services for EB in Australia and New Zealand. The history and epidemiology of EB in Australia is described. Current treatment and research achievements are described.
引用
收藏
页码:433 / +
页数:7
相关论文
共 49 条
[1]   Basic fibroblast growth factor: A missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa [J].
Arbiser, JL ;
Fine, JD ;
Murrell, D ;
Paller, A ;
Connors, S ;
Keough, K ;
Marsh, E ;
Folkman, J .
MOLECULAR MEDICINE, 1998, 4 (03) :191-195
[2]   Laryngo-onycho-cutaneous Syndrome [J].
Cohn, Heather Irina ;
Murrell, Dedee F. .
DERMATOLOGIC CLINICS, 2010, 28 (01) :89-+
[3]   Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes [J].
Cummins, RE ;
Klingberg, S ;
Wesley, J ;
Rogers, M ;
Zhao, YL ;
Murrell, DF .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (05) :1103-1107
[4]   Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome:: Three novel mutations and a review of the literature [J].
Dang, Ningning ;
Klingberg, Sandra ;
Rubin, Adam I. ;
Edwards, Matthew ;
Borelli, Siegfried ;
Relic, John ;
Marr, Penelope ;
Tran, Kim ;
Turner, Anne ;
Smith, Nicholas ;
Murrell, Dedee F. .
ACTA DERMATO-VENEREOLOGICA, 2008, 88 (05) :438-448
[5]   Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [J].
Dang, Ningning ;
Murrell, Dedee F. .
EXPERIMENTAL DERMATOLOGY, 2008, 17 (07) :553-568
[6]   Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants [J].
Dang, Ningning ;
Klingberg, Sandra ;
Marr, Penelope ;
Murrell, Dedee F. .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2007, 46 (03) :169-178
[7]  
Eisenberg M, 1998, BRIT J PLAST SURG, V51, P608, DOI 10.1016/S0007-1226(98)99997-0
[8]   Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome [J].
Figueira, Edwin C. ;
Crotty, Anne ;
Challinor, Christopher J. ;
Coroneo, Minas T. ;
Murrell, Dedee F. .
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2007, 35 (02) :163-166
[9]   The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB [J].
Fine, Jo-David ;
Eady, Robin A. J. ;
Bauer, Eugene A. ;
Bauer, Johann W. ;
Bruckner-Tuderman, Leena ;
Heagerty, Adrian ;
Hintner, Helmut ;
Hovnanian, Alain ;
Jonkman, Marcel E. ;
Leigh, Irene ;
McGrath, John A. ;
Mellerio, Jemima E. ;
Murrell, Dedee E. ;
Shimizu, Hiroshi ;
Uitto, Jouni ;
Vahlquist, Anders ;
Woodley, David ;
Zambruno, Giovanna .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2008, 58 (06) :931-950
[10]   Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: an EB-specific quality of life instrument [J].
Frew, J. W. ;
Martin, L. K. ;
Nijsten, T. ;
Murrell, D. F. .
BRITISH JOURNAL OF DERMATOLOGY, 2009, 161 (06) :1323-1330