Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

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• 作者：Jo-David Fine ; MD ; MPH ; FRCP^a ; ^b ; ^{Jo-David.Fine@vanderbilt.edu" class="auth_mail} ; Leena Bruckner-Tuderman ; MD ; PhD^c ; Robin A.J. Eady ; DSc ; FRCP ; FMedSci^d ; Eugene A. Bauer ; MD^e ; Johann W. Bauer ; MD^f ; Cristina Has ; MD^c ; Adrian Heagerty ; MD ; FRCP^g ; Helmut Hintner ; MD^f ; Alain Hovnanian ; MD ; PhD^h ; Marcel F. Jonkman ; MD ; PhDⁱ ; Irene Leigh ; CBE ; DSc ; FRCP ; FRSE ; FMedSci^j ; M. Peter Marinkovich ; MD^e ; ^k ; Anna E. Martinez ; FRCPCH^l ; John A. McGrath ; MD ; FRCP ; FMedSci^d ; Jemima E. Mellerio ; MD ; FRCP^d ; ^l ; Celia Moss ; DM ; FRCP ; MRCPCH^m ; Dedee F. Murrell ; MD ; FACDⁿ ; Hiroshi Shimizu ; MD ; PhD^o ; Jouni Uitto ; MD ; PhD^p ; David Woodley ; MD^q ; Giovanna Zambruno ; MD^r
• 关键词：classification ; diagnosis ; electron microscopy ; epidermolysis bullosa ; gene ; genetics ; monoclonal antibodies
• 刊名：Journal of the American Academy of Dermatology
• 出版年：June 2014
• 年：2014
• 卷：70
• 期：6
• 页码：1103-1126
• 全文大小：460 K

文摘

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.