Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Identifieur interne : 003597 ( PubMed/Curation ); précédent : 003596; suivant : 003598Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Auteurs : Jo-David Fine [États-Unis] ; Leena Bruckner-Tuderman [Allemagne] ; Robin A J. Eady [Royaume-Uni] ; Eugene A. Bauer [États-Unis] ; Johann W. Bauer [Autriche] ; Cristina Has [Allemagne] ; Adrian Heagerty [Royaume-Uni] ; Helmut Hintner [Autriche] ; Alain Hovnanian [France] ; Marcel F. Jonkman [Pays-Bas] ; Irene Leigh [Royaume-Uni] ; M Peter Marinkovich [États-Unis] ; Anna E. Martinez [Royaume-Uni] ; John A. Mcgrath [Royaume-Uni] ; Jemima E. Mellerio [Royaume-Uni] ; Celia Moss [Royaume-Uni] ; Dedee F. Murrell [Australie] ; Hiroshi Shimizu [Japon] ; Jouni Uitto [États-Unis] ; David Woodley [États-Unis] ; Giovanna Zambruno [Italie]Source :
- Journal of the American Academy of Dermatology [ 1097-6787 ] ; 2014.
Descripteurs français
- KwdFr :
- Consensus, Femelle, Humains, Incidence, Indice de gravité médicale, Mâle, Pronostic, Prédisposition génétique à une maladie (épidémiologie), Régulation de l'expression des gènes, Sensibilité et spécificité, Épidermolyse bulleuse (), Épidermolyse bulleuse (diagnostic), Épidermolyse bulleuse (génétique).
- MESH :
- diagnostic : Épidermolyse bulleuse.
- génétique : Épidermolyse bulleuse.
- épidémiologie : Prédisposition génétique à une maladie.
- Consensus, Femelle, Humains, Incidence, Indice de gravité médicale, Mâle, Pronostic, Régulation de l'expression des gènes, Sensibilité et spécificité, Épidermolyse bulleuse.
English descriptors
- KwdEn :
- MESH :
- classification : Epidermolysis Bullosa.
- diagnosis : Epidermolysis Bullosa.
- epidemiology : Genetic Predisposition to Disease.
- genetics : Epidermolysis Bullosa.
- Consensus, Female, Gene Expression Regulation, Humans, Incidence, Male, Prognosis, Sensitivity and Specificity, Severity of Illness Index.
Abstract
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.
DOI: 10.1016/j.jaad.2014.01.903
PubMed: 24690439
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Electronic address: Jo-David.Fine@vanderbilt.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>Vanderbilt University School of Medicine, Nashville, Tennessee; National Epidermolysis Bullosa Registry, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Bruckner Tuderman, Leena" sort="Bruckner Tuderman, Leena" uniqKey="Bruckner Tuderman L" first="Leena" last="Bruckner-Tuderman">Leena Bruckner-Tuderman</name><affiliation wicri:level="1"><nlm:affiliation>University Medical Center Freiburg, Freiburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medical Center Freiburg, Freiburg</wicri:regionArea></affiliation></author><author><name sortKey="Eady, Robin A J" sort="Eady, Robin A J" uniqKey="Eady R" first="Robin A J" last="Eady">Robin A J. 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Jonkman</name><affiliation wicri:level="1"><nlm:affiliation>University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></affiliation></author><author><name sortKey="Leigh, Irene" sort="Leigh, Irene" uniqKey="Leigh I" first="Irene" last="Leigh">Irene Leigh</name><affiliation wicri:level="2"><nlm:affiliation>University of Dundee, Dundee, Scotland.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Écosse</region></placeName><wicri:cityArea>University of Dundee, Dundee</wicri:cityArea></affiliation></author><author><name sortKey="Marinkovich, M Peter" sort="Marinkovich, M Peter" uniqKey="Marinkovich M" first="M Peter" last="Marinkovich">M Peter Marinkovich</name><affiliation wicri:level="2"><nlm:affiliation>Stanford University School of Medicine, Stanford, California; Dermatology Service, Palo Alto Veterans Affairs Medical Center, Palo Alto, California.</nlm:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Stanford University School of Medicine, Stanford, California; Dermatology Service, Palo Alto Veterans Affairs Medical Center, Palo Alto</wicri:cityArea></affiliation></author><author><name sortKey="Martinez, Anna E" sort="Martinez, Anna E" uniqKey="Martinez A" first="Anna E" last="Martinez">Anna E. Martinez</name><affiliation wicri:level="2"><nlm:affiliation>Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Great Ormond Street Hospital for Children National Health Service Foundation Trust, London</wicri:cityArea></affiliation></author><author><name sortKey="Mcgrath, John A" sort="Mcgrath, John A" uniqKey="Mcgrath J" first="John A" last="Mcgrath">John A. Mcgrath</name><affiliation wicri:level="2"><nlm: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.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>St John's Institute of Dermatology, King's College London and Guy's and St Thomas' Hospital National Health Service Foundation Trust, London</wicri:cityArea></affiliation></author><author><name sortKey="Mellerio, Jemima E" sort="Mellerio, Jemima E" uniqKey="Mellerio J" first="Jemima E" last="Mellerio">Jemima E. Mellerio</name><affiliation wicri:level="2"><nlm: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.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>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</wicri:cityArea></affiliation></author><author><name sortKey="Moss, Celia" sort="Moss, Celia" uniqKey="Moss C" first="Celia" last="Moss">Celia Moss</name><affiliation wicri:level="2"><nlm:affiliation>Birmingham Children's Hospital and University of Birmingham, Birmingham, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Birmingham Children's Hospital and University of Birmingham, Birmingham</wicri:cityArea></affiliation></author><author><name sortKey="Murrell, Dedee F" sort="Murrell, Dedee F" uniqKey="Murrell D" first="Dedee F" last="Murrell">Dedee F. Murrell</name><affiliation wicri:level="1"><nlm:affiliation>St George Hospital and University of New South Wales, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>St George Hospital and University of New South Wales, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Shimizu, Hiroshi" sort="Shimizu, Hiroshi" uniqKey="Shimizu H" first="Hiroshi" last="Shimizu">Hiroshi Shimizu</name><affiliation wicri:level="1"><nlm:affiliation>Hokkaido University School of Medicine, Sapporo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Hokkaido University School of Medicine, Sapporo</wicri:regionArea></affiliation></author><author><name sortKey="Uitto, Jouni" sort="Uitto, Jouni" uniqKey="Uitto J" first="Jouni" last="Uitto">Jouni Uitto</name><affiliation wicri:level="2"><nlm:affiliation>Thomas Jefferson University, Philadelphia, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Thomas Jefferson University, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Woodley, David" sort="Woodley, David" uniqKey="Woodley D" first="David" last="Woodley">David Woodley</name><affiliation wicri:level="2"><nlm:affiliation>University of Southern California, Los Angeles, California.</nlm:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>University of Southern California, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Zambruno, Giovanna" sort="Zambruno, Giovanna" uniqKey="Zambruno G" first="Giovanna" last="Zambruno">Giovanna Zambruno</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24690439</idno><idno type="pmid">24690439</idno><idno type="doi">10.1016/j.jaad.2014.01.903</idno><idno type="wicri:Area/PubMed/Corpus">003711</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003711</idno><idno type="wicri:Area/PubMed/Curation">003597</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003597</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.</title><author><name sortKey="Fine, Jo David" sort="Fine, Jo David" uniqKey="Fine J" first="Jo-David" last="Fine">Jo-David Fine</name><affiliation wicri:level="2"><nlm:affiliation>Vanderbilt University School of Medicine, Nashville, Tennessee; National Epidermolysis Bullosa Registry, Nashville, Tennessee. Electronic address: Jo-David.Fine@vanderbilt.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>Vanderbilt University School of Medicine, Nashville, Tennessee; National Epidermolysis Bullosa Registry, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Bruckner Tuderman, Leena" sort="Bruckner Tuderman, Leena" uniqKey="Bruckner Tuderman L" first="Leena" last="Bruckner-Tuderman">Leena Bruckner-Tuderman</name><affiliation wicri:level="1"><nlm:affiliation>University Medical Center Freiburg, Freiburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medical Center Freiburg, Freiburg</wicri:regionArea></affiliation></author><author><name sortKey="Eady, Robin A J" sort="Eady, Robin A J" uniqKey="Eady R" first="Robin A J" last="Eady">Robin A J. Eady</name><affiliation wicri:level="2"><nlm: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.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>St John's Institute of Dermatology, King's College London and Guy's and St Thomas' Hospital National Health Service Foundation Trust, London</wicri:cityArea></affiliation></author><author><name sortKey="Bauer, Eugene A" sort="Bauer, Eugene A" uniqKey="Bauer E" first="Eugene A" last="Bauer">Eugene A. Bauer</name><affiliation wicri:level="2"><nlm:affiliation>Stanford University School of Medicine, Stanford, California.</nlm:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Stanford University School of Medicine, Stanford</wicri:cityArea></affiliation></author><author><name sortKey="Bauer, Johann W" sort="Bauer, Johann W" uniqKey="Bauer J" first="Johann W" last="Bauer">Johann W. Bauer</name><affiliation wicri:level="1"><nlm:affiliation>Paracelsus Private Medical University, Salzburg, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Paracelsus Private Medical University, Salzburg</wicri:regionArea></affiliation></author><author><name sortKey="Has, Cristina" sort="Has, Cristina" uniqKey="Has C" first="Cristina" last="Has">Cristina Has</name><affiliation wicri:level="1"><nlm:affiliation>University Medical Center Freiburg, Freiburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medical Center Freiburg, Freiburg</wicri:regionArea></affiliation></author><author><name sortKey="Heagerty, Adrian" sort="Heagerty, Adrian" uniqKey="Heagerty A" first="Adrian" last="Heagerty">Adrian Heagerty</name><affiliation wicri:level="2"><nlm:affiliation>Heart of England Foundation Trust, Birmingham, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Heart of England Foundation Trust, Birmingham</wicri:cityArea></affiliation></author><author><name sortKey="Hintner, Helmut" sort="Hintner, Helmut" uniqKey="Hintner H" first="Helmut" last="Hintner">Helmut Hintner</name><affiliation wicri:level="1"><nlm:affiliation>Paracelsus Private Medical University, Salzburg, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Paracelsus Private Medical University, Salzburg</wicri:regionArea></affiliation></author><author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name><affiliation wicri:level="1"><nlm:affiliation>INSERM and Department of Genetics, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM and Department of Genetics, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Jonkman, Marcel F" sort="Jonkman, Marcel F" uniqKey="Jonkman M" first="Marcel F" last="Jonkman">Marcel F. Jonkman</name><affiliation wicri:level="1"><nlm:affiliation>University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></affiliation></author><author><name sortKey="Leigh, Irene" sort="Leigh, Irene" uniqKey="Leigh I" first="Irene" last="Leigh">Irene Leigh</name><affiliation wicri:level="2"><nlm:affiliation>University of Dundee, Dundee, Scotland.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Écosse</region></placeName><wicri:cityArea>University of Dundee, Dundee</wicri:cityArea></affiliation></author><author><name sortKey="Marinkovich, M Peter" sort="Marinkovich, M Peter" uniqKey="Marinkovich M" first="M Peter" last="Marinkovich">M Peter Marinkovich</name><affiliation wicri:level="2"><nlm:affiliation>Stanford University School of Medicine, Stanford, California; Dermatology Service, Palo Alto Veterans Affairs Medical Center, Palo Alto, California.</nlm:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Stanford University School of Medicine, Stanford, California; Dermatology Service, Palo Alto Veterans Affairs Medical Center, Palo Alto</wicri:cityArea></affiliation></author><author><name sortKey="Martinez, Anna E" sort="Martinez, Anna E" uniqKey="Martinez A" first="Anna E" last="Martinez">Anna E. Martinez</name><affiliation wicri:level="2"><nlm:affiliation>Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Great Ormond Street Hospital for Children National Health Service Foundation Trust, London</wicri:cityArea></affiliation></author><author><name sortKey="Mcgrath, John A" sort="Mcgrath, John A" uniqKey="Mcgrath J" first="John A" last="Mcgrath">John A. Mcgrath</name><affiliation wicri:level="2"><nlm: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.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>St John's Institute of Dermatology, King's College London and Guy's and St Thomas' Hospital National Health Service Foundation Trust, London</wicri:cityArea></affiliation></author><author><name sortKey="Mellerio, Jemima E" sort="Mellerio, Jemima E" uniqKey="Mellerio J" first="Jemima E" last="Mellerio">Jemima E. Mellerio</name><affiliation wicri:level="2"><nlm: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.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>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</wicri:cityArea></affiliation></author><author><name sortKey="Moss, Celia" sort="Moss, Celia" uniqKey="Moss C" first="Celia" last="Moss">Celia Moss</name><affiliation wicri:level="2"><nlm:affiliation>Birmingham Children's Hospital and University of Birmingham, Birmingham, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Birmingham Children's Hospital and University of Birmingham, Birmingham</wicri:cityArea></affiliation></author><author><name sortKey="Murrell, Dedee F" sort="Murrell, Dedee F" uniqKey="Murrell D" first="Dedee F" last="Murrell">Dedee F. Murrell</name><affiliation wicri:level="1"><nlm:affiliation>St George Hospital and University of New South Wales, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>St George Hospital and University of New South Wales, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Shimizu, Hiroshi" sort="Shimizu, Hiroshi" uniqKey="Shimizu H" first="Hiroshi" last="Shimizu">Hiroshi Shimizu</name><affiliation wicri:level="1"><nlm:affiliation>Hokkaido University School of Medicine, Sapporo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Hokkaido University School of Medicine, Sapporo</wicri:regionArea></affiliation></author><author><name sortKey="Uitto, Jouni" sort="Uitto, Jouni" uniqKey="Uitto J" first="Jouni" last="Uitto">Jouni Uitto</name><affiliation wicri:level="2"><nlm:affiliation>Thomas Jefferson University, Philadelphia, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Thomas Jefferson University, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Woodley, David" sort="Woodley, David" uniqKey="Woodley D" first="David" last="Woodley">David Woodley</name><affiliation wicri:level="2"><nlm:affiliation>University of Southern California, Los Angeles, California.</nlm:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>University of Southern California, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Zambruno, Giovanna" sort="Zambruno, Giovanna" uniqKey="Zambruno G" first="Giovanna" last="Zambruno">Giovanna Zambruno</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome</wicri:regionArea></affiliation></author></analytic><series><title level="j">Journal of the American Academy of Dermatology</title><idno type="eISSN">1097-6787</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Consensus</term><term>Epidermolysis Bullosa (classification)</term><term>Epidermolysis Bullosa (diagnosis)</term><term>Epidermolysis Bullosa (genetics)</term><term>Female</term><term>Gene Expression Regulation</term><term>Genetic Predisposition to Disease (epidemiology)</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Prognosis</term><term>Sensitivity and Specificity</term><term>Severity of Illness Index</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Consensus</term><term>Femelle</term><term>Humains</term><term>Incidence</term><term>Indice de gravité médicale</term><term>Mâle</term><term>Pronostic</term><term>Prédisposition génétique à une maladie (épidémiologie)</term><term>Régulation de l'expression des gènes</term><term>Sensibilité et spécificité</term><term>Épidermolyse bulleuse ()</term><term>Épidermolyse bulleuse (diagnostic)</term><term>Épidermolyse bulleuse (génétique)</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Epidermolysis Bullosa</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Epidermolysis Bullosa</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Épidermolyse bulleuse</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Genetic Predisposition to Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epidermolysis Bullosa</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Épidermolyse bulleuse</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Prédisposition génétique à une maladie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Consensus</term><term>Female</term><term>Gene Expression Regulation</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Prognosis</term><term>Sensitivity and Specificity</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Consensus</term><term>Femelle</term><term>Humains</term><term>Incidence</term><term>Indice de gravité médicale</term><term>Mâle</term><term>Pronostic</term><term>Régulation de l'expression des gènes</term><term>Sensibilité et spécificité</term><term>Épidermolyse bulleuse</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24690439</PMID><DateCreated><Year>2014</Year><Month>05</Month><Day>16</Day></DateCreated><DateCompleted><Year>2014</Year><Month>06</Month><Day>30</Day></DateCompleted><DateRevised><Year>2014</Year><Month>05</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1097-6787</ISSN><JournalIssue CitedMedium="Internet"><Volume>70</Volume><Issue>6</Issue><PubDate><Year>2014</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Journal of the American Academy of Dermatology</Title><ISOAbbreviation>J. Am. Acad. Dermatol.</ISOAbbreviation></Journal><ArticleTitle>Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.</ArticleTitle><Pagination><MedlinePgn>1103-26</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.jaad.2014.01.903</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0190-9622(14)01040-8</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="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.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">We sought to arrive at an updated consensus on the classification of EB subtypes, based on newer data, both clinical and molecular.</AbstractText><AbstractText Label="RESULTS" NlmCategory="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).</AbstractText><AbstractText Label="LIMITATIONS" NlmCategory="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.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="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.</AbstractText><CopyrightInformation>Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Fine</LastName><ForeName>Jo-David</ForeName><Initials>JD</Initials><AffiliationInfo><Affiliation>Vanderbilt University School of Medicine, Nashville, Tennessee; National Epidermolysis Bullosa Registry, Nashville, Tennessee. Electronic address: Jo-David.Fine@vanderbilt.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bruckner-Tuderman</LastName><ForeName>Leena</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>University Medical Center Freiburg, Freiburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Eady</LastName><ForeName>Robin A J</ForeName><Initials>RA</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Eugene A</ForeName><Initials>EA</Initials><AffiliationInfo><Affiliation>Stanford University School of Medicine, Stanford, California.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Johann W</ForeName><Initials>JW</Initials><AffiliationInfo><Affiliation>Paracelsus Private Medical University, Salzburg, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Has</LastName><ForeName>Cristina</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>University Medical Center Freiburg, Freiburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heagerty</LastName><ForeName>Adrian</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Heart of England Foundation Trust, Birmingham, England.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hintner</LastName><ForeName>Helmut</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Paracelsus Private Medical University, Salzburg, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hovnanian</LastName><ForeName>Alain</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>INSERM and Department of Genetics, Toulouse, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jonkman</LastName><ForeName>Marcel F</ForeName><Initials>MF</Initials><AffiliationInfo><Affiliation>University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leigh</LastName><ForeName>Irene</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>University of Dundee, Dundee, Scotland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marinkovich</LastName><ForeName>M Peter</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Stanford University School of Medicine, Stanford, California; Dermatology Service, Palo Alto Veterans Affairs Medical Center, Palo Alto, California.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martinez</LastName><ForeName>Anna E</ForeName><Initials>AE</Initials><AffiliationInfo><Affiliation>Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, England.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McGrath</LastName><ForeName>John A</ForeName><Initials>JA</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mellerio</LastName><ForeName>Jemima E</ForeName><Initials>JE</Initials><AffiliationInfo><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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moss</LastName><ForeName>Celia</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Birmingham Children's Hospital and University of Birmingham, Birmingham, England.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Murrell</LastName><ForeName>Dedee F</ForeName><Initials>DF</Initials><AffiliationInfo><Affiliation>St George Hospital and University of New South Wales, Sydney, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shimizu</LastName><ForeName>Hiroshi</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Hokkaido University School of Medicine, Sapporo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Uitto</LastName><ForeName>Jouni</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Thomas Jefferson University, Philadelphia, Pennsylvania.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Woodley</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>University of Southern California, Los Angeles, California.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zambruno</LastName><ForeName>Giovanna</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Istituto Dermopatico dell' Immacolata, IDI-IRCCS, Rome, Italy.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>03</Month><Day>29</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Am Acad Dermatol</MedlineTA><NlmUniqueID>7907132</NlmUniqueID><ISSNLinking>0190-9622</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D032921" MajorTopicYN="N">Consensus</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004820" MajorTopicYN="N">Epidermolysis Bullosa</DescriptorName><QualifierName UI="Q000145" MajorTopicYN="Y">classification</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005786" MajorTopicYN="N">Gene Expression Regulation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015994" MajorTopicYN="N">Incidence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011379" MajorTopicYN="N">Prognosis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012680" MajorTopicYN="N">Sensitivity and Specificity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012720" MajorTopicYN="N">Severity of Illness Index</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">classification</Keyword><Keyword MajorTopicYN="N">diagnosis</Keyword><Keyword MajorTopicYN="N">electron microscopy</Keyword><Keyword MajorTopicYN="N">epidermolysis bullosa</Keyword><Keyword MajorTopicYN="N">gene</Keyword><Keyword MajorTopicYN="N">genetics</Keyword><Keyword MajorTopicYN="N">monoclonal antibodies</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>12</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>01</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>01</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>4</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>4</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>7</Month><Day>1</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24690439</ArticleId><ArticleId IdType="pii">S0190-9622(14)01040-8</ArticleId><ArticleId IdType="doi">10.1016/j.jaad.2014.01.903</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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