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Ichthyoses: clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables

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Bibliographische Detailangaben
Format:	Buch
Sprache:	English
Veröffentlicht:	Basel [u.a.] Karger 2010
Schriftenreihe:	Current problems in dermatology 39
Schlagworte:	Ichthyose
Online-Zugang:	Inhaltstext Inhaltsverzeichnis
Beschreibung:	IX, 144 S. Ill., graph. Darst.
ISBN:	9783805593946

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MARC


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adam_text	CONTENTS DEDICATION VIL PREFACE VIN CHAPTER 1 : INTRODUCTION I 1.1. CLASSIFICATION OF THE ICHTHYOSES (DISORDERS OF CORNIFKATION) BY VINCENZ OJI 4 1.1.1 RECOMMENDED REVISION OF TERMINOLOGY AND CLASSIFICATION OF INHERITED ICHTHYOSES 4 1.1.2 GENERAL FRAMEWORK FOR THE REVISED CLASSIFICATION SCHEME 4 1.1.3 CLASSIFICATION OF AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSES 5 1.1.4 CLASSIFICATION OF THE KERATINOPATHIC ICHTHYOSES 7 1.1.5 OTHER DISEASES THAT FALL WITHIN THE UMBRELLA OF INHERITED ICHTHYOSES 10 1.2. SYNOPSIS OF NORMAL STRATUM CORNEUM STRUCTURE AND FUNCTION 12 1.3. HISTORICAL PATHOGENIC CONCEPTS 15 1.4. FUNCTION-DRIVEN PATHOGENESIS OF THE ICHTHYOSES 16 1.5. PERMEABILITY BARRIER DYSFUNCTION AS THE 'DRIVER' OF DISEASE EXPRESSION 18 1.6. BASIS FOR INFLAMMATION IN THE ICHTHYOSES 19 1.7. BASIS FOR ABNORMAL DESQUAMATION IN THE ICHTHYOSES 20 1.8. SYSTEMIC CONSEQUENCES OF BARRIER ABNORMALITIES IN THE DISORDERS OF CORNIFICATION 22 1.9. UTILITY OF ULTRASTRUCTURE IN THE DIFFERENTIAL DIAGNOSIS OF THE ICHTHYOSES 24 1.10. REFERENCES 26 CHAPTER 2: INHERITED CLINICAL DISORDERS OF LIPID METABOLISM 30 2.1. DISORDERS OF FATTY ACID METABOLISM (NONSYNDROMIC) 30 2.1.1 AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSES 30 2.2. MULTISYSTEM DISEASES OF FATTY ACID METABOLISM 40 2.2.1 NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSIS (CHANARIN-DORFMAN SYNDROME) 40 2.2.2 SJOEGREN-LARSSON SYNDROME 43 2.2.3 REFSUM DISEASE 47 2.3 BIBLIOGRAFISCHE INFORMATIONEN HTTP://D-NB.INFO/1002057698 DIGITALISIERT DURCH VI CONTENTS 2.5.3 CEDNIK, MEDNIK AND ARC SYNDROMES 76 2.6. REFERENCES 78 CHAPTER 3: INHERITED DISORDERS OF ACCELERATED DESQUAMATION 89 3.1. NETHERTON SYNDROME 89 3.1.1 CLINICAL CHARACTERISTICS AND BIOCHEMICAL GENETICS OF NETHERTON SYNDROME 89 3.1.2 BIOCHEMICAL GENETICS 90 3.1.3 PATHOGENESIS OF NETHERTON SYNDROME 90 3.1.4 CELLULAR PATHOGENESIS AND DIAGNOSTIC ULTRASTRUCTURE 92 3.2. RELATIONSHIP OF NETHERTON SYNDROME TO ATOPIC DERMATITIS 93 3.3. PEELING SKIN SYNDROME 94 3.4. REFERENCES 95 CHAPTER 4: INHERITED DISORDERS OF CORNEOCYTE PROTEINS 98 4.1. THE KERATINOPATHIC ICHTHYOSES 98 4.1.1 EPIDERMOLYTIC ICHTHYOSIS (EPIDERMOLYTIC HYPERKERATOSIS) AND SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS (ICHTHYOSIS BULLOSA OF SIEMENS) 98 4.2. DISORDERS OF THE CORNEOCYTE ENVELOPE 105 4.2.1 AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSES (TGM1 MUTATIONS) 105 4.2.2 LORICRIN KERATODERMA 110 4.2.3 ICHTHYOSIS VULGARIS 113 4.3. ICHTHYOSIS EN CONFETTIS 122 4.3.1 CLINICAL FEATURES 122 4.3.2 PATHOLOGY AND DIAGNOSTIC ULTRASTRUCTURE 123 4.4. REFERENCES 126 CHAPTER 5: APPENDICES 132 APPENDIX 1: ULTRASTRUCTURAL AND HISTOCHEMICAL METHODS 132 APPENDIX 2: GLOSSARY OF TERMINOLOGY 137 APPENDIX 3: MOLECULAR DIAGNOSTIC RESOURCES 139 SUBJECT INDEX 142
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spelling	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables Peter M. Elias ... Basel [u.a.] Karger 2010 IX, 144 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Current problems in dermatology 39 Ichthyose (DE-588)4161192-5 gnd rswk-swf Ichthyose (DE-588)4161192-5 s DE-604 Elias, Peter M. Sonstige oth Erscheint auch als Online-Ausgabe 978-3-8055-9395-3 Current problems in dermatology 39 (DE-604)BV002570447 39 text/html http://deposit.dnb.de/cgi-bin/dokserv?id=3464500&prov=M&dok_var=1&dok_ext=htm Inhaltstext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=020613644&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis
spellingShingle	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables Current problems in dermatology Ichthyose (DE-588)4161192-5 gnd
subject_GND	(DE-588)4161192-5
title	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables
title_auth	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables
title_exact_search	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables
title_full	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables Peter M. Elias ...
title_fullStr	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables Peter M. Elias ...
title_full_unstemmed	Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables Peter M. Elias ...
title_short	Ichthyoses
title_sort	ichthyoses clinical biochemical pathogenic and diagnostic assessment 9 tables
title_sub	clinical, biochemical, pathogenic and diagnostic assessment ; 9 tables
topic	Ichthyose (DE-588)4161192-5 gnd
topic_facet	Ichthyose
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