Elias / Williams / Crumrine Ichthyoses

Clinical, Biochemical, Pathogenic and Diagnostic Assessment.
1. Auflage 2010
ISBN: 978-3-8055-9395-3
Verlag: S. Karger
Format: PDF
Kopierschutz: Adobe DRM (»Systemvoraussetzungen)

E-Book, Englisch, Band 39, 154 Seiten

Reihe: Current Problems in Dermatology

The various manifestations of ichthyoses are classified either by their appearance or their molecular genetics. This volume focuses on generalized, inherited disorders of cornification, which constitute an ever-enlarging group of monogenic diseases caused by a large number of genes that affect a broad array of cellular functions. The authors' overview reflects their unique perspective that the clinical phenotype in the inherited ichthyoses mirrors a 'best attempt' by a metabolically compromised epidermis to maintain a barrier sufficiently impermeable for survival in a desiccating external environment.The basis for threats to survival is illuminated, and the systemic problems, including growth failure, also reflect a compromised barrier. A new consensus classification of these disorders is provided, and the distinguishing clinical features of each disorder are described. Further, the latest molecular genetic information is succinctly reviewed with up-to-date and comprehensive references. Yet, the major emphases of this volume are on disease pathogenesis and on the identification of key ultrastructural features.This publication will prove an invaluable aid to dermatologists, pediatric dermatologists and pediatricians dealing with patients with inherited ichthyoses. In addition, clinical geneticists and dermatopathologists will find it interesting reading.

Autoren/Hrsg.

Elias, P.M.

Elias,

Williams, M.L.

Williams,

Crumrine, D.

Crumrine,

Schmuth, M.

Schmuth,

Itin, P.

Jemec, G.

Weitere Mitwirkende

Itin, P.

Jemec, G.B.E.

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Pädiatrie, Neonatologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Endokrinologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Dermatologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Histologie

Inhaltsverzeichnis

1;Cover;1
2;Contents;6
3;Dedication;8
4;Preface;9
5;Chapter 1: Introduction;11
5.1;1.1. Classification of the Ichthyoses (Disorders of Cornification);14
5.2;1.2. Synopsis of Normal Stratum Corneum Structure and Function;22
5.3;1.3. Historical Pathogenic Concepts;25
5.4;1.4. Function-Driven Pathogenesis of the Ichthyoses;26
5.5;1.5. Permeability Barrier Dysfunction as the ‘Driver’ of Disease Expression;28
5.6;1.6. Basis for Inflammation in the Ichthyoses;29
5.7;1.7. Basis for Abnormal Desquamation in the Ichthyoses;30
5.8;1.8. Systemic Consequences of Barrier Abnormalities in the Disorders of Cornification;32
5.9;1.9. Utility of Ultrastructure in the Differential Diagnosis of the Ichthyoses;34
5.10;1.10. References;36
6;Chapter 2: Inherited Clinical Disorders of Lipid Metabolism;40
6.1;2.1. Disorders of Fatty Acid Metabolism (Nonsyndromic);40
6.2;2.2. Multisystem Diseases of Fatty Acid Metabolism;50
6.3;2.3. Multisystem Diseases of Cholesterol Metabolism;62
6.4;2.4. Multisystem Diseases of Sphingolipid Metabolism;74
6.5;2.5. Defective Lipid Transporters;78
6.6;2.6. References;88
7;Chapter 3: Inherited Disorders of Accelerated Desquamation;99
7.1;3.1. Netherton Syndrome;99
7.2;3.2. Relationship of Netherton Syndrome to Atopic Dermatitis;103
7.3;3.3. Peeling Skin Syndrome;104
7.4;3.4. References;105
8;Chapter 4: Inherited Disorders of Corneocyte Proteins;108
8.1;4.1. The Keratinopathic Ichthyoses;108
8.2;4.2. Disorders of the Corneocyte Envelope;115
8.3;4.3. Ichthyosis en Confettis;132
8.4;4.4. References;136
9;Chapter 5: Appendices;142
9.1;Appendix 1: Ultrastructural and Histochemical Methods;142
9.1.1;Tissue Preparation;142
9.1.2;Other Ultrastructural Methods;144
9.2;Appendix 2: Glossary of Terminology;147
9.3;Appendix 3: Molecular Diagnostic Resources;149
10;Subject Index;152