Ichthyoses: clinical, biochemical, pathogenic and diagnostic assessment
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 bro...
Gespeichert in:
| Hauptverfasser: | , , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Basel
Karger
2011
|
| Schriftenreihe: | Current problems in dermatology
Vol. 39 |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Zusammenfassung: | 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 |
| Beschreibung: | From molecular genetics to clinical features |
| Beschreibung: | 1 Online-Ressource (X, 144 Seiten) Illustrationen, Diagramme |
| ISBN: | 9783805593953 |
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| 490 | 1 | |a Current problems in dermatology |v Vol. 39 | |
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| 520 | |a 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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Datensatz im Suchindex
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| author | Elias, Peter M. Williams, Mary L. Crumrine, Debra Schmuth, Matthias |
| author_facet | Elias, Peter M. Williams, Mary L. Crumrine, Debra Schmuth, Matthias |
| author_role | aut aut aut aut |
| author_sort | Elias, Peter M. |
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| dewey-ones | 616 - Diseases |
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| dewey-sort | 3616.544 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Electronic eBook |
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| isbn | 9783805593953 |
| language | English |
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| spelling | Elias, Peter M. Verfasser aut Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment Peter M. Elias, Mary L. Williams, Debra Crumrine, Matthias Schmuth Basel Karger 2011 1 Online-Ressource (X, 144 Seiten) Illustrationen, Diagramme txt rdacontent c rdamedia cr rdacarrier Current problems in dermatology Vol. 39 From molecular genetics to clinical features 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 Ichthyose (DE-588)4161192-5 gnd rswk-swf Ichthyose (DE-588)4161192-5 s b DE-604 Williams, Mary L. Verfasser aut Crumrine, Debra Verfasser aut Schmuth, Matthias Verfasser aut Erscheint auch als Druck-Ausgabe 978-3-8055-9394-6 (DE-604)BV036695090 Current problems in dermatology Vol. 39 (DE-604)BV039142756 39 https://karger.com/books/book/2693 Verlag Volltext |
| spellingShingle | Elias, Peter M. Williams, Mary L. Crumrine, Debra Schmuth, Matthias Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment Current problems in dermatology Ichthyose (DE-588)4161192-5 gnd |
| subject_GND | (DE-588)4161192-5 |
| title | Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment |
| title_auth | Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment |
| title_exact_search | Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment |
| title_full | Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment Peter M. Elias, Mary L. Williams, Debra Crumrine, Matthias Schmuth |
| title_fullStr | Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment Peter M. Elias, Mary L. Williams, Debra Crumrine, Matthias Schmuth |
| title_full_unstemmed | Ichthyoses clinical, biochemical, pathogenic and diagnostic assessment Peter M. Elias, Mary L. Williams, Debra Crumrine, Matthias Schmuth |
| title_short | Ichthyoses |
| title_sort | ichthyoses clinical biochemical pathogenic and diagnostic assessment |
| title_sub | clinical, biochemical, pathogenic and diagnostic assessment |
| topic | Ichthyose (DE-588)4161192-5 gnd |
| topic_facet | Ichthyose |
| url | https://karger.com/books/book/2693 |
| volume_link | (DE-604)BV039142756 |
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