Verfügbarkeit: Clinical aspects of epidermolysis bullosa

Clinical aspects of epidermolysis bullosa: findings of the Freiburg epidermolysis bullosa registry 2003-2011

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Bibliographische Detailangaben
1. Verfasser:	Stanisławski, Grzegorz (VerfasserIn)
Format:	Abschlussarbeit Buch
Sprache:	English
Veröffentlicht:	Freiburg (Breisgau) 2015
Schlagworte:	Hochschulschrift
Online-Zugang:	Inhaltsverzeichnis Inhaltsverzeichnis
Beschreibung:	66 Blätter Illustrationen, Diagramme 30 cm

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MARC


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Datensatz im Suchindex

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adam_text	AUS DER KLINIK FUER DERMATOLOGIE UND VENEROLOGIE DES UNIVERSITAETSKLINIKUMS FREIBURG IM BREISGAU CLINICAL ASPECTS O F EPIDERMOLYSIS BULLOSA - FINDINGS O F THE FREIBURG EPIDERMOLYSIS BULLOSA REGISTRY - 2003-2011 INAUGURAL-DISSERTATION ZUR ERLANGUNG DES MEDIZINISCHEN DOKTORGRADES DER MEDIZINISCHEN FAKULTAET DER ALBERT-LUDWIGS-UNIVERSITAET FREIBURG IM BREISGAU VORGELEGT 2015 VON GRZEGORZ STANISLAWSKI GEBOREN IN POLCZYN-ZDROEJ (POLEN) CONTENTS ABBREVIATIONS ........................................................................... SUMMARY .................................................................................. ZUSAMMENFASSUNG .................................................................... 1. INTRODUCTION .......................................................................... 1.1 EPIDERMOLYSIS BULLOSA- DEFINITIONS AND HISTORICAL ASPECTS................................................8 1.2 SKIN STRUCTURE................................................................................................................... 8 1.3 EPIDERMOLYSIS BULLOSA - TYPES AND SUBTYPES................................................................... 11 1.3.1 EB SIMPLEX............................................................................................................. 11 1.3.2 FUNCTIONAL E B ......................................................................................................... 13 1.3.3 DYSTROPHIC EB .................................... 15 1.3.4 KINDLER SYNDROME....................................................................................................17 1.4 GENETICS OF EB .............................................................................................................. 18 1.4.1 GENETICS OF EB SIMPLEX...........................................................................................19 1.4.2 GENETICS OF JUNCTIONAL E B ...................................................................................... 20 1.4.3 GENETICS OF DYSTROPHIC EB...................................................................................... 20 1.4.4 GENETICS OF KINDLER SYNDROME................................................................................ 21 1.5 EPIDERMOLYSIS BULLOSA REGISTRIES AND EPIDEMIOLOGY.......................................................22 1.5.1 EUROPEAN REGISTRIES................................................................................................ 22 THE UK EB DATA SYSTEM................................................................................................ 22 THE ITALIAN EB REGISTRY................................................................................................... 22 THE AUSTRIAN EB REGISTRY............................................................................................... 22 THE DUTCH EB DATABASE.................................................................................................. 23 THE BULGARIAN EB REGISTRY............................................................................................. 23 EB REGISTRIES IN SPAIN..................................................................................................... 23 EB REGISTRY IN IRELAND..................................................................................................... 24 1.5.2 NON-EUROPEAN REGISTRIES....................................................................................... 24 THE US NATIONAL EB REGISTRY (NEBR)........................................................................... 24 THE AUSTRALASIAN EB REGISTRY (AEBR) ........................................................................... 25 2.1 ANALYSIS OF THE STUDY DATA............................................................................................. 26 2.2 EVALUATION OF THE REGISTRY.............................................................................................. 26 3. METHODS...............................................................................................................................27 3.1 THE FREIBURG EB REGISTRY AND THE GERMAN EB-NETWORK............................................27 3.1.1 STRUCTURE OF THE FREIBURG EB REGISTRY .................................................................... 27 3.1.2 CLINICAL ASSESSMENT OF THE INCLUDED PATIENTS .......................................................... 27 3.1.3 MOLECULAR DIAGNOSIS WITH IMMUNFLUORESCENCE MAPPING AND MUTATION SCREENING ..28 3.1.4 STATISTICAL ANALYSIS..................................................................................................29 4. RESULTS................................................................................................................................ 30 4.1 EPIDEMIOLOGICAL ASPECTS OF EB IN GERMANY (BASED ON THE FEBR)................................30 DISTRIBUTION OF EBS SUBTYPES.......................................................................................... 31 DISTRIBUTION OF JEB SUBTYPES........................................................................................... 33 DISTRIBUTION OF DEB SUBTYPES......................................................................................... 33 INCIDENCE UND PREVALENCE OF EB IN GERMANY .................................................................. 35 4.2 AGE AT THE TIME OF THE EB DIAGNOSIS.............................................................................. 36 4.3 CLINICAL ASPECTS..............................................................................................................39 BLISTER FORMATION.............................................................................................................39 NAIL INVOLVEMENT.............................................................................................................40 MUCOSAL INVOLVEMENT......................................................................................................42 FEATURES OF WOUND HEALING.............................................................................................. 43 EB NAEVI......................................................................................................................... 43 ORAL AND GASTROINTESTINAL TRACT FINDINGS........................................................................... 44 OO T O N VI COMPLICATIONS AND ASSOCIATED FEATURES OF EB ..................................................................46 GROWTH RETARDATION IN EB ................................................................................................ 47 CANCER IN EB PATIENTS...................................................................................................... 50 4.4 DIAGNOSTIC AND GENETIC ASPECTS.................................................................................... 51 4.4.1 EBS PATIENTS........................................................................................................... 52 4.4.2 JEB PATIENTS.................................................................................... 53 4.4.3 DEB PATIENTS.......................................................................................................... 54 4.4.4 KINDLER SYNDROME PATIENTS......................................................................................55 5. DISCUSSION........................................................................................................................... 56 DATA COLLECTION................................................................................................................. 56 QUALITY CONTROL................................................................................................................. 56 PREVALENCE OF EB .......................................... 57 GROWTH RETARDATION IN EB................................................................................................ 59 GENETIC CONCLUSIONS........................................................................................................ 59 6. REFERENCES........................................................................................................................... 61 CURRICULUM VITAE...................................................................................................................... 65 ACKNOWLEDGMENT / DANKSAGUNG............................................................................................. 66
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author	Stanisławski, Grzegorz
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spelling	Stanisławski, Grzegorz Verfasser (DE-588)171587545 aut Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011 vorgelegt von Grzegorz Stanislawski Freiburg (Breisgau) 2015 66 Blätter Illustrationen, Diagramme 30 cm txt rdacontent n rdamedia nc rdacarrier Dissertation Albert-Ludwigs-Universität Freiburg im Breisgau 2017 (DE-588)4113937-9 Hochschulschrift gnd-content B:DE-101 application/pdf http://d-nb.info/1131186915/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=030700537&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis
spellingShingle	Stanisławski, Grzegorz Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011
subject_GND	(DE-588)4113937-9
title	Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011
title_auth	Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011
title_exact_search	Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011
title_full	Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011 vorgelegt von Grzegorz Stanislawski
title_fullStr	Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011 vorgelegt von Grzegorz Stanislawski
title_full_unstemmed	Clinical aspects of epidermolysis bullosa findings of the Freiburg epidermolysis bullosa registry 2003-2011 vorgelegt von Grzegorz Stanislawski
title_short	Clinical aspects of epidermolysis bullosa
title_sort	clinical aspects of epidermolysis bullosa findings of the freiburg epidermolysis bullosa registry 2003 2011
title_sub	findings of the Freiburg epidermolysis bullosa registry 2003-2011
topic_facet	Hochschulschrift
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