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, Adrian Heagerty, Helmut Hintner, Alain Hovnanian, Marcel F. Jonkman, Irene Leigh, M. Peter Marinkovich, Anna E. Martinez, John A. McGrath, Jemima E. Mellerio, Celia Moss, Dedee F. Murrell, Hiroshi Shimizu, Jouni Uitto, David WoodleyGiovanna Zambruno

研究成果: Review article同行評審

719 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)1103-1126
頁數24
期刊Journal of the American Academy of Dermatology
70
發行號6
DOIs
出版狀態Published - 2014 6月

All Science Journal Classification (ASJC) codes

  • 皮膚科

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