Overview of epidermolysis bullosa

被引：66

作者：

Sawamura, Daisuke ^{[1
]}

Nakano, Hajime ^{[1
]}

Matsuzaki, Yasushi ^{[1
]}

机构：

[1] Hirosaki Univ, Dept Dermatol, Grad Sch Med, Hirosaki, Aomori 0368562, Japan

来源：

JOURNAL OF DERMATOLOGY | 2010年 / 37卷 / 03期

关键词：

basement membrane; blister; bone marrow transplantation; diagnosis; epidermolysis bullosa; PYLORIC ATRESIA; VII COLLAGEN; MISSENSE MUTATION; GENE LAMC2; DOMAIN; CLASSIFICATION; IDENTIFICATION; FIBROBLASTS; LAMININ-5; THERAPY;

D O I：

10.1111/j.1346-8138.2009.00800.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Epidermolysis bullosa (EB) is classified into major types - EB simplex (EBS), junctional EB (JEB) and dystrophic EB (DEB) - on the basis of the level of tissue separation within the cutaneous basement membrane zone. Recent advances in research on EB have led to the identification of 10 genes responsible for EB. The Japanese Ministry of Health, Labor and Welfare has designated JEB and DEB, but not EBS, as specified diseases. However, EBS has a lethal variant and should also be registered as a specified disease. In the Third Consensus Meeting on the Diagnosis and Classification of EB held in Vienna in 2007, it was recommended that Kindler syndrome should be classified as a subtype of EB. Corrective gene therapy is the most ideal therapy for EB, but much more research is required before it can be developed and used in clinical practice. Cell-based therapies using fibroblasts and bone marrow cells have recently attracted considerable attention.

引用

页码：214 / 219

页数：6

共 23 条

[1] ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia [J].

Abe, Masataka ;

Sawamura, Daisuke ;

Goto, Maki ;

Nakamura, Hideki ;

Nagasaki, Akari ;

Nomura, Yukiko ;

Kawasaki, Hiroyuki ;

Isogai, Rieko ;

Shimizu, Hiroshi .

JOURNAL OF DERMATOLOGICAL SCIENCE, 2007, 47 (02) :165-167

[2] HERLITZS JUNCTIONAL EPIDERMOLYSIS-BULLOSA IS LINKED TO MUTATIONS IN THE GENE (LAMC2) FOR THE GAMMA-2 SUBUNIT OF NICEIN/KALININ (LAMININ-5) [J].

ABERDAM, D ;

GALLIANO, MF ;

VAILLY, J ;

PULKKINEN, L ;

BONIFAS, J ;

CHRISTIANO, AM ;

TRYGGVASON, K ;

UITTO, J ;

EPSTEIN, EH ;

ORTONNE, JP ;

MENEGUZZI, G .

NATURE GENETICS, 1994, 6 (03) :299-304

[3] THE GENETIC-BASIS OF WEBER-COCKAYNE EPIDERMOLYSIS-BULLOSA SIMPLEX [J].

CHAN, YM ;

YU, QC ;

FINE, JD ;

FUCHS, E .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (15) :7414-7418

[4] Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance [J].

Chino, Takenao ;

Tamai, Katsuto ;

Yamazaki, Takehiko ;

Otsuru, Satoru ;

Kikuchi, Yasushi ;

Nimura, Keisuke ;

Endo, Masayuki ;

Nagai, Miki ;

Uitto, Jouni ;

Kitajima, Yasuo ;

Kaneda, Yasufumi .

AMERICAN JOURNAL OF PATHOLOGY, 2008, 173 (03) :803-814

[5] A MISSENSE MUTATION IN TYPE-VII COLLAGEN IN 2 AFFECTED SIBLINGS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA [J].

CHRISTIANO, AM ;

GREENSPAN, DS ;

HOFFMAN, GG ;

ZHANG, X ;

TAMAI, Y ;

LIN, AN ;

DIETZ, HC ;

HOVNANIAN, A ;

UITTO, J .

NATURE GENETICS, 1993, 4 (01) :62-66

[6] DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA - IDENTIFICATION OF A GLY-]SER SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN [J].

CHRISTIANO, AM ;

RYYNANEN, M ;

UITTO, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (09) :3549-3553

[7] 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

[8] Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice [J].

GeorgesLabouesse, E ;

Messaddeq, N ;

Yehia, G ;

Cadalbert, L ;

Dierich, A ;

LeMeur, M .

NATURE GENETICS, 1996, 13 (03) :370-373

[9] Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa [J].

Goto, Maki ;

Sawamura, Daisuke ;

Ito, Kei ;

Abe, Masataka ;

Nishie, Wataru ;

Sakai, Kaori ;

Shibaki, Akihiko ;

Akiyama, Masashi ;

Shimizu, Hiroshi .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 (04) :766-772

[10] A HOMOZYGOUS INSERTION-DELETION IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN HALLOPEAU-SIEMENS DYSTROPHIC EPIDERMOLYSIS-BULLOSA [J].

HILAL, L ;

ROCHAT, A ;

DUQUESNOY, P ;

BLANCHETBARDON, C ;

WECHSLER, J ;

MARTIN, N ;

CHRISTIANO, AM ;

BARRANDON, Y ;

UITTO, J ;

GOOSSENS, M ;

HOVNANIAN, A .

NATURE GENETICS, 1993, 5 (03) :287-293

← 1 2 3 →