Ichthyoses: Clinical, Biochemical, Pathogenic and Diagnostic Assessment

by Crumrine, D. Elias, P.M Itin, P. Jemec, G.B.E Schmuth, M. Williams, M.L

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Title Statements

Full title :Ichthyoses : Clinical, Biochemical, Pathogenic and Diagnostic Assessment

Summary

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.

Edition Statements

Publication Date:2010
Edition:1. Aufl

Publication Statements

Publisher(s):S. Karger
Place of Publication:Basel
Language:eng
Publication Date:2010

Notes

Lizenzpflichtig

The Physical Object

Description:Online-Ressource : 89 fig., 15 in color, 9 tab.

Edition Identifiers

ISBN:9783805593953, 3805593953, 3805593945, 9783805593946
oclc:ocn759860974
LC Classification:RL435
Dewey Decimal:616.544

Subjects

(Produktform)Electronic book text (VLB-WN)9693 Dermatologie Dermatology Diagnose Genetics Hautkrankheit Histology Ichthyose Ichthyosis Ichthyosis -- diagnosis Ichthyosis -- genetics Ichthyosis -- pathology Ichtyose Metabolism Online-Publikation Pathogenese Pediatrics Skin Diseases -- diagnosis Skin Diseases -- genetics