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
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
收藏
页码:107 / +
页数:9
相关论文
共 32 条
[21]   DYSTROPHIC EPIDERMOLYSIS-BULLOSA INVERSA - REPORT OF 2 CASES WITH FURTHER CORRELATION BETWEEN ELECTRON-MICROSCOPIC AND IMMUNOFLUORESCENCE STUDIES [J].
LIN, AN ;
SMITH, LT ;
FINE, JD .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1995, 33 (02) :361-365
[22]   EPIDERMOLYSIS-BULLOSA PRURIGINOSA - DYSTROPHIC EPIDERMOLYSIS-BULLOSA WITH DISTINCTIVE CLINICOPATHOLOGICAL FEATURES [J].
MCGRATH, JA ;
SCHOFIELD, OMV ;
EADY, RAJ .
BRITISH JOURNAL OF DERMATOLOGY, 1994, 130 (05) :617-625
[23]   Stable nonviral genetic correction of inherited human skin disease (vol 8, pg 1166, 2002) [J].
Ortiz-Urda, S ;
Thyagarajan, B ;
Keene, DR ;
Lin, Q ;
Fang, M ;
Calos, MP ;
Khavari, PA .
NATURE MEDICINE, 2003, 9 (02) :237-237
[24]   Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts - Anchoring fibrils are a target for tissue transglutaminase [J].
Raghunath, M ;
Hopfner, B ;
Aeschlimann, D ;
Luthi, U ;
Meuli, M ;
Altermatt, S ;
Gobet, R ;
BrucknerTuderman, L ;
Steinmann, B .
JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (05) :1174-1184
[25]   Injection of Recombinant Human Type VII Collagen Corrects the Disease Phenotype in a Murine Model of Dystrophic Epidermolysis Bullosa [J].
Remington, Jennifer ;
Wang, Xinyi ;
Hou, Yingpin ;
Zhou, Hui ;
Burnett, Julie ;
Muirhead, Trevor ;
Uitto, Jouni ;
Keene, Douglas R. ;
Woodley, David T. ;
Chen, Mei .
MOLECULAR THERAPY, 2009, 17 (01) :26-33
[26]   Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa [J].
Sato-Matsumura, KC ;
Yasukawa, K .
ARCHIVES OF DERMATOLOGY, 2002, 138 (02) :269-271
[27]   Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations [J].
Schumann, H. ;
Has, C. ;
Kohlhase, J. ;
Bruckner-Tuderman, L. .
BRITISH JOURNAL OF DERMATOLOGY, 2008, 159 (02) :464-469
[28]   Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells [J].
Tolar, Jakub ;
Ishida-Yamamoto, Akemi ;
Riddle, Megan ;
McElmurry, Ron T. ;
Osborn, Mark ;
Xia, Lily ;
Lund, Troy ;
Slattery, Catherine ;
Uitto, Jouni ;
Christiano, Angela M. ;
Wagner, John E. ;
Blazar, Bruce R. .
BLOOD, 2009, 113 (05) :1167-1174
[29]   Epidermolysis bullosa: Prospects for cell-based therapies [J].
Uitto, Jouni .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2008, 128 (09) :2140-2142
[30]   Supramolecular interactions in the dermo-epidermal junction zone - Anchoring fibril-collagen VII tightly binds to banded collagen fibrils [J].
Villone, Daniela ;
Fritsch, Anja ;
Koch, Manuel ;
Bruckner-Tuderman, Leena ;
Hansen, Uwe ;
Bruckner, Peter .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2008, 283 (36) :24506-24513