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Ichthyoses. Clinical, Biochemical, Pathogenic and Diagnostic Assessment (Current Problems in Dermatology, Vol. 39)
Elias, P. — Williams, M. — Crumrine, D. — Schmuth, M.
1ª Edición Septiembre 2010
Inglés
Tapa dura
144 pags
681 gr
20 x 26 x 1 cm
ISBN 9783805593946
Editorial KARGER
LIBRO IMPRESO
-5%
165,60 €157,32 €IVA incluido
159,23 €151,27 €IVA no incluido
Recíbelo en un plazo de
2 - 3 semanas
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.
Contents
Introduction
Elias, P.M. ; Williams, M.L. ; Crumrine, D. ; Schmuth, M.
Chapter 2: Inherited Clinical Disorders of Lipid Metabolism
Elias, P.M. ; Williams, M.L. ; Crumrine, D. ; Schmuth, M.
Chapter 3: Inherited Disorders of Accelerated Desquamation
Elias, P.M. ; Williams, M.L. ; Crumrine, D. ; Schmuth, M.
Chapter 4: Inherited Disorders of Corneocyte Proteins
Elias, P.M. ; Williams, M.L. ; Crumrine, D. ; Schmuth, M.
Chapter 5: Appendices
Appendix 1: Ultrastructural and Histochemical Methods
Crumrine, D.
Appendix 2: Glossary of Terminology
Elias, P.M.
Appendix 3: Molecular Diagnostic Resources
Ichthyosis Consensus Group, ;
Further Section
Subject Index
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