Published by Springer Nature Switzerland, Springer International Publishing, 2025
ISBN 10: 3031757890 ISBN 13: 9783031757891
Language: English
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Add to basketBuch. Condition: Neu. Druck auf Anfrage Neuware - Printed after ordering - Ectodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.g., sweat gland, tooth, nail, hair), that count about 100 different manifestations. Therefore, the multidisciplinary aspect is a novel but crucial approach to correctly diagnose and treat this kind of diseases and eventually direct patients to specialized centers. A new classification has been proposed as well as new therapeutic options, such as the first prenatal protein replacement therapy for a genetic disease, X-linked hypohidrotic ectodermal dysplasia. The chapters of this book address all relevant topics, starting with epidemiology and embryology, disease classification, molecular biology, EDA1-associated ED, WNT10A-related ED, and p63-related ED. A chapter on ED caused by defects of structural proteins is included and one specifically devoted to differential diagnoses. Specific chapters describe diagnostic assessments and treatment: odontostomatological signs and therapy, ophthalmological or otorhinolaringoiatric signs, other organ involvement, neurological and neuropsychological issues. The final part is dedicated to the most recent developments in molecular therapy and the extremely important role of parents' and patients' associations.Written by internationally renowned experts, this handy resource will be of valuable help for a variety of specialists who deal with ectodermal dysplasias in their daily clinical work, e.g., pediatricians, dermatologists, ENT-specialists, dentists.
Published by Springer International Publishing, 2020
ISBN 10: 3319924494 ISBN 13: 9783319924496
Language: English
Seller: AHA-BUCH GmbH, Einbeck, Germany
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Add to basketBuch. Condition: Neu. Druck auf Anfrage Neuware - Printed after ordering - This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference.NF1 is a 'time-dependent' disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations.In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius.All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.
Published by Springer Nature Switzerland, Springer International Publishing Jan 2025, 2025
ISBN 10: 3031757890 ISBN 13: 9783031757891
Language: English
Seller: buchversandmimpf2000, Emtmannsberg, BAYE, Germany
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Add to basketBuch. Condition: Neu. Neuware Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg 228 pp. Englisch.
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Add to basketCondition: Very Good. 2. Very Good; Hardcover; This book is brand new and still sealed in the publisher's original shrinkwrap, but the corners are "bumped" through the plastic; This book will be shipped in a sturdy cardboard box with foam padding; Large Format (Quatro, 10.75" - 11.75" tall); Orange covers with title in dark brown and black lettering; 2nd Edition; 2015, CRC Press; 571 pages; "Atlas of Genodermatoses," by Gianluca Tadini, et al.
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Published by Springer International Publishing, 2020
ISBN 10: 3319924494 ISBN 13: 9783319924496
Language: English
Seller: moluna, Greven, Germany
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Add to basketGebunden. Condition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. Provides a comprehensive tool and updated account of this common neuroectodermal disorder, from bench to bedside Written by leading clinicians and scientists, covering all aspects of NF1 in a multidisciplinary approach Includes sound clin.
Published by Springer Verlag GmbH, 2025
ISBN 10: 3031757890 ISBN 13: 9783031757891
Language: English
Seller: moluna, Greven, Germany
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Add to basketCondition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt.
Published by Springer International Publishing Jun 2020, 2020
ISBN 10: 3319924494 ISBN 13: 9783319924496
Language: English
Seller: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, Germany
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Add to basketBuch. Condition: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference.NF1 is a 'time-dependent' disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations.In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius.All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners. 328 pp. Englisch.
Published by Springer International Publishing, Springer International Publishing Jun 2020, 2020
ISBN 10: 3319924494 ISBN 13: 9783319924496
Language: English
Seller: buchversandmimpf2000, Emtmannsberg, BAYE, Germany
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Add to basketBuch. Condition: Neu. This item is printed on demand - Print on Demand Titel. Neuware -This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference.NF1 is a ¿time-dependent¿ disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations.In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius.All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg 328 pp. Englisch.
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Seller: moluna, Greven, Germany
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Add to basketCondition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. Gianluca Tadini, MD, Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, University of Milan, Milan, ItalyMichela Brena, MD, Pediatric Dermatolo.
Seller: moluna, Greven, Germany
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Add to basketCondition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. Gianluca Tadini, MD, Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, University of Milan, Milan, ItalyMichela Brena, MD, Pediatric Dermatolo.