Dystrophic Epidermolysis Bullosa: Pathogenesis and Clinical Features

被引：80

作者：

Bruckner-Tuderman, Leena ^{[1
]}

机构：

[1] Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, Germany

来源：

DERMATOLOGIC CLINICS | 2010年 / 28卷 / 01期

关键词：

Blistering; Scarring; Dermal-epidermal junction; Anchoring fibrils; GLYCINE SUBSTITUTION MUTATIONS; VII COLLAGEN; ANCHORING FIBRILS; COL7A1; MUTATIONS; SKIN; PHENOTYPE; PRURIGINOSA; THERAPY; MODEL; DERMOLYSIS;

D O I：

10.1016/j.det.2009.10.020

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Dystrophic epidermolysis bullosa (DEB) is relatively well understood. Potential therapies are in development. This article describes the pathogenesis and clinical features of DEB. It also describes therapeutic options and the future of molecular therapies.

引用

页码：107 / +

页数：9

共 32 条

[1] Now Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter [J].

Almaani, Noor ;

Liu, Lu ;

Harrison, Naomi ;

Tanaka, Akio ;

Lai-Cheong, Joey E. ;

Mellerio, Jemima E. ;

McGrathi, John A. .

ACTA DERMATO-VENEREOLOGICA, 2009, 89 (01) :6-11

[2] Cetuximab Therapy of Metastasizing Cutaneous Squamous Cell Carcinoma in a Patient with Severe Recessive Dystrophic Epidermolysis Bullosa [J].

Arnold, Andreas W. ;

Bruckner-Tuderman, Leena ;

Zueger, Christina ;

Itin, Peter H. .

DERMATOLOGY, 2009, 219 (01) :80-83

[3]

Aumailley Monique, 2006, Expert Reviews in Molecular Medicine, V8, P1, DOI 10.1017/S1462399406000123

[4] Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors [J].

Baldeschi, C ;

Gache, Y ;

Rattenholl, A ;

Bouillé, P ;

Danos, O ;

Ortonne, JP ;

Bruckner-Tuderman, L ;

Meneguzzi, G .

HUMAN MOLECULAR GENETICS, 2003, 12 (15) :1897-1905

[5] Biology of anchoring fibrils:: lessons from dystrophic epidermolysis bullosa [J].

Bruckner-Tuderman, L ;

Höpfner, B ;

Hammami-Hauasli, N .

MATRIX BIOLOGY, 1999, 18 (01) :43-54

[6]

Bruckner-Tuderman L, 2009, BRAUN FALCOS DERMATO, P628

[7]

BRUCKNERTUDERMA.L, 2008, FITZPATRICKS DERMATO, P736

[8] LACK OF TYPE-VII COLLAGEN IN UNAFFECTED SKIN OF PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA [J].

BRUCKNERTUDERMAN, L ;

RUEGGER, S ;

ODERMATT, B ;

MITSUHASHI, Y ;

SCHNYDER, UW .

DERMATOLOGICA, 1988, 176 (02) :57-64

[9] 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

[10] Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [J].

Dang, Ningning ;

Murrell, Dedee F. .

EXPERIMENTAL DERMATOLOGY, 2008, 17 (07) :553-568

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