Jo-David Fine1, Leena Bruckner-Tuderman2, Robin A J Eady3, Eugene A Bauer4, Johann W Bauer5, Cristina Has2, Adrian Heagerty6, Helmut Hintner5, Alain Hovnanian7, Marcel F Jonkman8, Irene Leigh9, M Peter Marinkovich10, Anna E Martinez11, John A McGrath3, Jemima E Mellerio12, Celia Moss13, Dedee F Murrell14, Hiroshi Shimizu15, Jouni Uitto16, David Woodley17, Giovanna Zambruno18. 1. Vanderbilt University School of Medicine, Nashville, Tennessee; National Epidermolysis Bullosa Registry, Nashville, Tennessee. Electronic address: Jo-David.Fine@vanderbilt.edu. 2. University Medical Center Freiburg, Freiburg, Germany. 3. St John's Institute of Dermatology, King's College London and Guy's and St Thomas' Hospital National Health Service Foundation Trust, London, England. 4. Stanford University School of Medicine, Stanford, California. 5. Paracelsus Private Medical University, Salzburg, Austria. 6. Heart of England Foundation Trust, Birmingham, England. 7. INSERM and Department of Genetics, Toulouse, France. 8. University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. 9. University of Dundee, Dundee, Scotland. 10. Stanford University School of Medicine, Stanford, California; Dermatology Service, Palo Alto Veterans Affairs Medical Center, Palo Alto, California. 11. Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, England. 12. St John's Institute of Dermatology, King's College London and Guy's and St Thomas' Hospital National Health Service Foundation Trust, London, England; Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, England. 13. Birmingham Children's Hospital and University of Birmingham, Birmingham, England. 14. St George Hospital and University of New South Wales, Sydney, Australia. 15. Hokkaido University School of Medicine, Sapporo, Japan. 16. Thomas Jefferson University, Philadelphia, Pennsylvania. 17. University of Southern California, Los Angeles, California. 18. Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome, Italy.
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.
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.
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