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Ichthyoses Clinical, Biochemical, Pathogenic and Diagnostic Assessment.

:	Elias, P.M. Elias, Williams, M.L. Williams, Crumrine, D. Crumrine, Schmuth, M. Schmuth
:	P. Itin, G. Jemec
:	Ichthyoses Clinical, Biochemical, Pathogenic and Diagnostic Assessment.
:	Karger
:	9783805593953
:	1
:	CHF 103.80
:

:	Klinische Fächer
:	English

:	154
:	DRM
:	PC/MAC/eReader/Tablet
:	PDF/ePUB

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.

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