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Ichthyosesclinical, biochemical, pat...

Elias, Peter M.

Ichthyosesclinical, biochemical, pathogenic and diagnostic assessment /

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	IchthyosesPeter M. Elias ... [et al.].
其他題名:	clinical, biochemical, pathogenic and diagnostic assessment /
其他作者:	Elias, Peter M.
出版者:	Basel [Switzerland] ;Karger,c2010.
面頁冊數:	1 online resource (ix, 144 p.) :ill. (some col.)
標題:	Ichthyosis.
電子資源:	http://content.karger.com/produkteDB/produkte.asp?Aktion=ShowEachType&ProduktNr=254153
ISBN:	9783805593953 (electronic bk.)

Ichthyosesclinical, biochemical, pathogenic and diagnostic assessment /
Ichthyosesclinical, biochemical, pathogenic and diagnostic assessment /[electronic resource] :Peter M. Elias ... [et al.]. - Basel [Switzerland] ;Karger,c2010. - 1 online resource (ix, 144 p.) :ill. (some col.) - Current problems in dermatology,v. 391421-5721 ;. - Current problems in dermatology ;v. 37..

Includes bibliographical references and index.

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.

ISBN: 9783805593953 (electronic bk.)Subjects--Topical Terms:

569347
Ichthyosis.
Index Terms--Genre/Form:

214472
Electronic books.

LC Class. No.: RL435 / .I18 2010

Dewey Class. No.: 616.5/44

National Library of Medicine Call No.: W1 / CU804L v.39 2010

Ichthyosesclinical, biochemical, pathogenic and diagnostic assessment /
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