Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification - 14/05/14
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.
Le texte complet de cet article est disponible en PDF.Key words : classification, diagnosis, electron microscopy, epidermolysis bullosa, gene, genetics, monoclonal antibodies
Abbreviations used : BMZ, BP, DDEB, DEB, EB, EBS, IFM, JEB, RDEB
Plan
Funding sources: None. (Although the authors have acknowledged in other unrelated publications their extramural support for their own epidermolysis bullosa–related research programs, none of these has provided funding for the Consensus Conference or the generation of this report.) |
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Conflicts of interest: None declared. |
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Reprints not available from the authors. |
Vol 70 - N° 6
P. 1103-1126 - juin 2014 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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