Journal ArticleDOI
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
Jo-David Fine,Leena Bruckner-Tuderman,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Cristina Has,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,M. Peter Marinkovich,M. Peter Marinkovich,Anna E. Martinez,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Celia Moss,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,David T. Woodley,Giovanna Zambruno +22 more
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TLDR
In this article, the authors presented a new approach to classification of epidermolysis bullosa (EB) that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and specific mutation(s), and their location(s).Abstract:
Background Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described. Objective We sought to arrive at an updated consensus on the classification of EB subtypes, based on newer data, both clinical and molecular. Results In this latest consensus report, we introduce a new approach to classification ("onion skinning") that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and–when possible–specific mutation(s) and their location(s). Limitations This classification scheme critically takes into account all published data through June 2013. Further modifications are likely in the future, as more is learned about this group of diseases. Conclusion The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and molecular features of each EB subtype, and has sufficient flexibility incorporated in its structure to permit further modifications in the future.read more
Citations
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Regeneration of the entire human epidermis using transgenic stem cells
Tobias Hirsch,Tobias Rothoeft,Norbert Teig,Johann W. Bauer,Graziella Pellegrini,Laura De Rosa,Davide Scaglione,Julia Reichelt,Alfred Klausegger,Daniela Kneisz,Oriana Romano,Alessia Secone Seconetti,Roberta Contin,Elena Enzo,Irena Jurman,Sonia Carulli,Frank Jacobsen,Thomas Luecke,Marcus Lehnhardt,Meike Fischer,Maximilian Kueckelhaus,Daniela Quaglino,Michele Morgante,Silvio Bicciato,Sergio Bondanza,Michele De Luca +25 more
TL;DR: It is shown that autologous transgenic keratinocyte cultures regenerated an entire, fully functional epidermis on a seven-year-old child suffering from a devastating, life-threatening form of JEB, providing a blueprint that can be applied to other stem cell-mediated combined ex vivo cell and gene therapies.
Journal ArticleDOI
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Cristina Has,Johann W. Bauer,Christine Bodemer,Maria C. Bolling,Leena Bruckner-Tuderman,Anja Diem,Jo-David Fine,Adrian Heagerty,Alain Hovnanian,M.P. Marinkovich,Anna E. Martinez,John A. McGrath,Celia Moss,Dedee F. Murrell,Francis Palisson,Agnes Schwieger-Briel,Eli Sprecher,Katsuto Tamai,Jouni Uitto,David T. Woodley,Giovanna Zambruno,Jemima E. Mellerio +21 more
TL;DR: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).
Journal ArticleDOI
Cell-Cell Junctions Organize Structural and Signaling Networks.
TL;DR: This work discusses the organization and function of cell-cell junctions primarily involved in adhesion (tight junction, adherens junction, and desmosomes) in two different epithelial tissues: a simple epithelium (intestine) and a stratified epithelia (epidermis).
Journal ArticleDOI
Manufacturing of Human Extracellular Vesicle-Based Therapeutics for Clinical Use
TL;DR: The requirements for manufacturing, safety, and efficacy testing of EVs along their path from the laboratory to the patient are discussed and strategies for advancing mesenchymal stromal cell (MSC)-derived EV-based therapies are focused on.
Journal ArticleDOI
Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa
Vittorio Sebastiano,Hanson H. Zhen,Bahareh Haddad,Elizaveta Bashkirova,Sandra P. Melo,Pei Wang,Thomas H. Leung,Zurab Siprashvili,Andrea L. Tichy,Jiang Li,Mohammed Ameen,John S. Hawkins,Susie Lee,Lingjie Li,Aaron H. Schwertschkow,Gerhard Bauer,Leszek Lisowski,Mark A. Kay,Seung K. Kim,Alfred T. Lane,Marius Wernig,Anthony E. Oro +21 more
TL;DR: The results provide a clinical platform to use iPSCs in the treatment of debilitating genodermatoses, such as RDEB, and demonstrate the utility of sequential reprogramming and adenovirus-associated viral genome editing to generate corrected iPSC banks.
References
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Journal ArticleDOI
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Jo-David Fine,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Leena Bruckner-Tuderman,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,Anders Vahlquist,David T. Woodley,Giovanna Zambruno +18 more
TL;DR: A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented.
Journal ArticleDOI
Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.
TL;DR: SCC is the most serious complication of EB within adults, especially those with RDEB-HS, and when compared with SCCs arising within the normal population, the remarkably high risk of occurrence of and then death from S CCs among RDEb patients suggests likely differences in pathogenesis.
Journal ArticleDOI
Studies on the pathogenesis of epidermolysis bullosa.
TL;DR: Attempts were made to reduce the difficulties by the exclusive use of specimens obtained from non-blistered or experimentally blistered areas, and by supplementing light microscope examinations by electron microscope observations, which tends to localize to some extent the site of the defects responsible for blister formation.
Journal ArticleDOI
CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin
Vanja Karamatic Crew,Nicholas M. Burton,Alexander Kagan,Carole Green,Cyril Levene,Frances Flinter,R. Leo Brady,Geoff Daniels,D J Anstee +8 more
TL;DR: It is concluded that CD151 is essential for the proper assembly of the glomerular and tubular basement membrane in kidney, has functional significance in the skin, is probably a component of the inner ear, and could play a role in erythropoiesis.
Journal ArticleDOI
Loss of Desmoplakin Tail Causes Lethal Acantholytic Epidermolysis Bullosa
Marcel F. Jonkman,Anna M.G. Pasmooij,Suzanne G.M.A. Pasmans,Maarten P. van den Berg,Henk J. ter Horst,Albertus Timmer,Hendri H. Pas +6 more
TL;DR: A patient with severe fragility of skin and mucous membranes caused by genetic truncation of the DP tail is reported, which is lethal in the neonatal period because of immense transcutaneous fluid loss and underscores the paramount role of DP in epidermal integrity.
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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Jo-David Fine,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Leena Bruckner-Tuderman,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,Anders Vahlquist,David T. Woodley,Giovanna Zambruno +18 more