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Author: Paolo Curatolo
Publisher: John Libbey Eurotext
ISBN: 2742006095
Category : Medical
Languages : en
Pages : 247
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Book Description
Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Author: Paolo Curatolo
Publisher: John Libbey Eurotext
ISBN: 2742006095
Category : Medical
Languages : en
Pages : 247
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Book Description
Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Author: Martino Ruggieri
Publisher: Springer Science & Business Media
ISBN: 3211695001
Category : Medical
Languages : en
Pages : 1052
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Book Description
The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Author: Monica P. Islam
Publisher: Elsevier
ISBN: 0444627154
Category : Science
Languages : en
Pages : 346
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Book Description
Neurocutaneous Syndromes provides the most updated and comprehensive resource on the disorders that lead to the growth of tumors in various parts of the body, those caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body and eyes, including the nervous system, and by certain differences in the skin. The most common neurocutaneous syndromes include, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and von Hippel-Lindau disease. Symptoms vary widely and while present early may not express until later in life. As molecular medicine and genetic science is continuing to impact our understanding of neurocutaneous syndromes, this book also includes the latest molecular and genetic science. Provides a comprehensive coverage of neurocutaneous syndromes Details the latest molecular and genetic science related to neurocutaneous syndromes Presents a focused reference for clinical practitioners and the neuroscience, clinical neurology, and neurogenetics research communities Includes updated sections on the latest molecular and genetic science
Author: Christos P. Panteliadis
Publisher: Springer Nature
ISBN: 3030878937
Category : Medical
Languages : en
Pages : 541
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Book Description
This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise. Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders. The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.
Author: Paolo CURATOLO
Publisher: John Libbey Eurotext
ISBN: 2742008705
Category : Medical
Languages : en
Pages : 247
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Book Description
Neurocutaneous syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual diagnosis. They include a large group of neurological disorders (neurofibromatosis type I, tuberous sclerosis complex, Sturge-Weber Syndrome, Von Hippel Lindau syndrome, hypomelanosis of Ito, and others) which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures, and psychiatric problems. In the past few years our knowledge of neurocutaneous syndromes has increased dramatically. Detailed information about the clinical features, natural history, and management of these complex multisystem disorders, and new data on the genetics of these conditions, has provided insight into their classification, pathophysiology, molecular biology, and genotype–phenotype correlations.
Author: Christos P. Panteliadis
Publisher: "Elsevier,Urban&FischerVerlag"
ISBN: 3437171178
Category : Medical
Languages : en
Pages : 315
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Book Description
Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
Author: Ranthilaka R. Ranawaka
Publisher: Springer Nature
ISBN: 9811554838
Category : Medical
Languages : en
Pages : 1048
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Book Description
This book focuses on the representation of dermatological diseases in pigmented skin, fills an important gap in the literature, and facilitates better dermatological diagnosis when dealing with patients of various ethnicities. It discusses over 400 diseases and their representations with the help of over 2000 high-quality images and illustrations. This book elaborates on each single disease using easy-to-follow schematics and a focused approach to facilitate reader learning. Pursuing a comprehensive, the book covers not only common skin diseases such as psoriasis, lichen planus, eczema, erythrasma, cutaneous tuberculosis, leprosy, leishmaniasis and oral submucous fibrosis, but also rare tropical diseases such as sporotrichosis, mycetoma, rhinosporodiosis, lobomycosis, mucormycosis and subcutaneous zygomycosis. It also addresses aesthetic concerns by covering hypopigmented and hyperpigmented disorders in pigmented skin such as guttate hypomelanosis, vitiligo, progressive macular hypomelanosis, chemical or physical induced depigmentation, melasma, sebo-melanosis, lichen and macular amyloidosis. Offering comprehensive coverage of dermatological disorders and diseases in pigmented skin, the book is a must-have resource for dermatology trainees and practitioners who treat or care for pigmented skin patients.
Author: Alex V. Levin
Publisher: Springer
ISBN: 3319183893
Category : Medical
Languages : en
Pages : 836
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Book Description
This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.
Author:
Publisher: ScholarlyEditions
ISBN: 1464961573
Category : Medical
Languages : en
Pages : 19
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Book Description
Neurocutaneous Syndromes: Advances in Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Neurocutaneous Syndromes in a compact format. The editors have built Neurocutaneous Syndromes: Advances in Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Neurocutaneous Syndromes in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Neurocutaneous Syndromes: Advances in Research and Treatment: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author: Manuel Rodriguez Gomez
Publisher: Butterworth-Heinemann
ISBN: 1483182886
Category : Health & Fitness
Languages : en
Pages : 414
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Book Description
Neurocutaneous Diseases is a systematic presentation limited to diseases that affect both of the nervous system and skin of humans. Neurologists and dermatologist will find knowledge of these diseases of real clinical value. Many of the diseases described in these pages do not affect the skin and nervous system simultaneously. Many of these diseases, mostly not well understood, may stimulate new lines of scientific inquiry, for understanding of a pathologic change in easily accessible dermal cells that promises to clarify a more recondite brain disease. This book is organized into five main parts. The chapters describe different types of diseases including those with autosomal dominant inheritance, those with autosomal recessive inheritance, those with x-linked inheritance, those with unknown or multiple inheritance and congenital and vascular anomalies. These diseases include neurofibromatosis, Cockayne's Syndrome, adrenoleukodystrophy, albinism and neurocutaneous melanosis. This book will be of interest to dermatologists and neurologists.
