title: Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
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).
  
  
  CONCLUSIONS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Vanderbilt University School of Medicine, Nashville, Tennessee; National Epidermolysis Bullosa Registry, Nashville, Tennessee. Electronic address: Jo-David.Fine@vanderbilt.edu.
authors.forename: Jo-David
authors.initials: JD
authors.lastname: Fine
authors.affiliation: University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.affiliation: St John's Institute of Dermatology, King's College London and Guy's and St Thomas' Hospital National Health Service Foundation Trust, London, England.
authors.forename: Robin A J
authors.initials: RA
authors.lastname: Eady
authors.affiliation: Stanford University School of Medicine, Stanford, California.
authors.forename: Eugene A
authors.initials: EA
authors.lastname: Bauer
authors.affiliation: Paracelsus Private Medical University, Salzburg, Austria.
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.affiliation: University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.affiliation: Heart of England Foundation Trust, Birmingham, England.
authors.forename: Adrian
authors.initials: A
authors.lastname: Heagerty
authors.affiliation: Paracelsus Private Medical University, Salzburg, Austria.
authors.forename: Helmut
authors.initials: H
authors.lastname: Hintner
authors.affiliation: INSERM and Department of Genetics, Toulouse, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Hovnanian
authors.affiliation: University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
authors.affiliation: University of Dundee, Dundee, Scotland.
authors.forename: Irene
authors.initials: I
authors.lastname: Leigh
authors.affiliation: Stanford University School of Medicine, Stanford, California; Dermatology Service, Palo Alto Veterans Affairs Medical Center, Palo Alto, California.
authors.forename: M Peter
authors.initials: MP
authors.lastname: Marinkovich
authors.affiliation: Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, England.
authors.forename: Anna E
authors.initials: AE
authors.lastname: Martinez
authors.affiliation: St John's Institute of Dermatology, King's College London and Guy's and St Thomas' Hospital National Health Service Foundation Trust, London, England.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: 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.
authors.forename: Jemima E
authors.initials: JE
authors.lastname: Mellerio
authors.affiliation: Birmingham Children's Hospital and University of Birmingham, Birmingham, England.
authors.forename: Celia
authors.initials: C
authors.lastname: Moss
authors.affiliation: St George Hospital and University of New South Wales, Sydney, Australia.
authors.forename: Dedee F
authors.initials: DF
authors.lastname: Murrell
authors.affiliation: Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
authors.affiliation: Thomas Jefferson University, Philadelphia, Pennsylvania.
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.affiliation: University of Southern California, Los Angeles, California.
authors.forename: David
authors.initials: D
authors.lastname: Woodley
authors.affiliation: Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zambruno
mesh_terms: D032921:Consensus; D004820:Epidermolysis Bullosa / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D008297:Male; D011379:Prognosis; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index
keywords: classification; diagnosis; electron microscopy; epidermolysis bullosa; gene; genetics; monoclonal antibodies