Ichthyoses
Clinical, Biochemical, Pathogenic and Diagnostic Assessment.
1st Edition
Published on 15. September 2010
144 pages
978-3-8055-9395-3 (ISBN)
Available for download
Description
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.
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P.M. Elias | M.L. Williams | D. Crumrine
Ichthyoses
Clinical, Biochemical, Pathogenic and Diagnostic Assessment.
Book
09/2010
1st Edition
S. Karger
€96.30
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Content
1 - Cover [Seite 1]
2 - Contents [Seite 6]
3 - Dedication [Seite 8]
4 - Preface [Seite 9]
5 - Chapter 1: Introduction [Seite 11]
5.1 - 1.1. Classification of the Ichthyoses (Disorders of Cornification) [Seite 14]
5.2 - 1.2. Synopsis of Normal Stratum Corneum Structure and Function [Seite 22]
5.3 - 1.3. Historical Pathogenic Concepts [Seite 25]
5.4 - 1.4. Function-Driven Pathogenesis of the Ichthyoses [Seite 26]
5.5 - 1.5. Permeability Barrier Dysfunction as the 'Driver' of Disease Expression [Seite 28]
5.6 - 1.6. Basis for Inflammation in the Ichthyoses [Seite 29]
5.7 - 1.7. Basis for Abnormal Desquamation in the Ichthyoses [Seite 30]
5.8 - 1.8. Systemic Consequences of Barrier Abnormalities in the Disorders of Cornification [Seite 32]
5.9 - 1.9. Utility of Ultrastructure in the Differential Diagnosis of the Ichthyoses [Seite 34]
5.10 - 1.10. References [Seite 36]
6 - Chapter 2: Inherited Clinical Disorders of Lipid Metabolism [Seite 40]
6.1 - 2.1. Disorders of Fatty Acid Metabolism (Nonsyndromic) [Seite 40]
6.2 - 2.2. Multisystem Diseases of Fatty Acid Metabolism [Seite 50]
6.3 - 2.3. Multisystem Diseases of Cholesterol Metabolism [Seite 62]
6.4 - 2.4. Multisystem Diseases of Sphingolipid Metabolism [Seite 74]
6.5 - 2.5. Defective Lipid Transporters [Seite 78]
6.6 - 2.6. References [Seite 88]
7 - Chapter 3: Inherited Disorders of Accelerated Desquamation [Seite 99]
7.1 - 3.1. Netherton Syndrome [Seite 99]
7.2 - 3.2. Relationship of Netherton Syndrome to Atopic Dermatitis [Seite 103]
7.3 - 3.3. Peeling Skin Syndrome [Seite 104]
7.4 - 3.4. References [Seite 105]
8 - Chapter 4: Inherited Disorders of Corneocyte Proteins [Seite 108]
8.1 - 4.1. The Keratinopathic Ichthyoses [Seite 108]
8.2 - 4.2. Disorders of the Corneocyte Envelope [Seite 115]
8.3 - 4.3. Ichthyosis en Confettis [Seite 132]
8.4 - 4.4. References [Seite 136]
9 - Chapter 5: Appendices [Seite 142]
9.1 - Appendix 1: Ultrastructural and Histochemical Methods [Seite 142]
9.1.1 - Tissue Preparation [Seite 142]
9.1.2 - Other Ultrastructural Methods [Seite 144]
9.2 - Appendix 2: Glossary of Terminology [Seite 147]
9.3 - Appendix 3: Molecular Diagnostic Resources [Seite 149]
10 - Subject Index [Seite 152]
2 - Contents [Seite 6]
3 - Dedication [Seite 8]
4 - Preface [Seite 9]
5 - Chapter 1: Introduction [Seite 11]
5.1 - 1.1. Classification of the Ichthyoses (Disorders of Cornification) [Seite 14]
5.2 - 1.2. Synopsis of Normal Stratum Corneum Structure and Function [Seite 22]
5.3 - 1.3. Historical Pathogenic Concepts [Seite 25]
5.4 - 1.4. Function-Driven Pathogenesis of the Ichthyoses [Seite 26]
5.5 - 1.5. Permeability Barrier Dysfunction as the 'Driver' of Disease Expression [Seite 28]
5.6 - 1.6. Basis for Inflammation in the Ichthyoses [Seite 29]
5.7 - 1.7. Basis for Abnormal Desquamation in the Ichthyoses [Seite 30]
5.8 - 1.8. Systemic Consequences of Barrier Abnormalities in the Disorders of Cornification [Seite 32]
5.9 - 1.9. Utility of Ultrastructure in the Differential Diagnosis of the Ichthyoses [Seite 34]
5.10 - 1.10. References [Seite 36]
6 - Chapter 2: Inherited Clinical Disorders of Lipid Metabolism [Seite 40]
6.1 - 2.1. Disorders of Fatty Acid Metabolism (Nonsyndromic) [Seite 40]
6.2 - 2.2. Multisystem Diseases of Fatty Acid Metabolism [Seite 50]
6.3 - 2.3. Multisystem Diseases of Cholesterol Metabolism [Seite 62]
6.4 - 2.4. Multisystem Diseases of Sphingolipid Metabolism [Seite 74]
6.5 - 2.5. Defective Lipid Transporters [Seite 78]
6.6 - 2.6. References [Seite 88]
7 - Chapter 3: Inherited Disorders of Accelerated Desquamation [Seite 99]
7.1 - 3.1. Netherton Syndrome [Seite 99]
7.2 - 3.2. Relationship of Netherton Syndrome to Atopic Dermatitis [Seite 103]
7.3 - 3.3. Peeling Skin Syndrome [Seite 104]
7.4 - 3.4. References [Seite 105]
8 - Chapter 4: Inherited Disorders of Corneocyte Proteins [Seite 108]
8.1 - 4.1. The Keratinopathic Ichthyoses [Seite 108]
8.2 - 4.2. Disorders of the Corneocyte Envelope [Seite 115]
8.3 - 4.3. Ichthyosis en Confettis [Seite 132]
8.4 - 4.4. References [Seite 136]
9 - Chapter 5: Appendices [Seite 142]
9.1 - Appendix 1: Ultrastructural and Histochemical Methods [Seite 142]
9.1.1 - Tissue Preparation [Seite 142]
9.1.2 - Other Ultrastructural Methods [Seite 144]
9.2 - Appendix 2: Glossary of Terminology [Seite 147]
9.3 - Appendix 3: Molecular Diagnostic Resources [Seite 149]
10 - Subject Index [Seite 152]
