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Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Fine, Jo-David and Bruckner-Tuderman, Leena and Eady, Robin A J and Bauer, Eugene A and Bauer, Johann W and Has, Cristina and Heagerty, Adrian and Hintner, Helmut and Hovnanian, Alain and Jonkman, Marcel F and Leigh, Irene and Marinkovich, M Peter and Martinez, Anna E and McGrath, John A and Mellerio, Jemima E and Moss, Celia and Murrell, Dedee F and Shimizu, Hiroshi and Uitto, Jouni and Woodley, David and Zambruno, Giovanna (2014) Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. Journal of the American Academy of Dermatology, 70 (6). pp. 1103-26. ISSN 1097-6787. This article is accessible to all HEFT staff and students via NHS Evidence www.evidence.nhs.uk by using their HEFT Athens login Ids

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Official URL: http://www.jaad.org/article/S0190-9622%2814%290104...

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.

Item Type: Article
Additional Information: This article is accessible to all HEFT staff and students via NHS Evidence www.evidence.nhs.uk by using their HEFT Athens login Ids
Subjects: WR Skin. Dermatology
Divisions: Ambulatory Care > Dermatology
Related URLs:
Depositing User: Mr Philip O'Reilly
Date Deposited: 12 Sep 2014 14:44
Last Modified: 12 Sep 2014 14:44
URI: http://www.repository.heartofengland.nhs.uk/id/eprint/755

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