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Neurocutaneous Syndromes
- 1st Edition, Volume 132 - November 9, 2015
- Editors: Monica P. Islam, E. Steve Roach
- Language: English
- Hardback ISBN:9 7 8 - 0 - 4 4 4 - 6 2 7 0 2 - 5
- eBook ISBN:9 7 8 - 0 - 4 4 4 - 6 2 7 1 5 - 5
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… Read more
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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
Neuroscience researchers, clinical neurologists, neuroradiologists, pediatric neurologists, neurogeneticists
- Foreword
- Preface
- Section 1: Introductory chapters
- Chapter 1: Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes
- Abstract
- Introduction
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- X-linked inheritance
- Somatic mosaicism
- Germline mosaicism
- Genetic counseling and reproductive options
- Conclusion
- Chapter 2: Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy
- Abstract
- Introduction
- Epidermal nevus and epidermal nevus syndrome
- Historical aspects and nomenclature
- Genetic and embryologic bases of epidermal nevus syndrome
- Systemic anomalies
- Brain anomalies in sebaceous and epidermal (keratinocytic) nevus syndromes
- Classification of neurologic phenotypes in epidermal nevus syndrome
- Chapter 1: Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes
- Section 2: Neurocutaneous syndromes
- Chapter 3: Acquired neurocutaneous disorders
- Abstract
- Introduction
- Behçet's disease
- Dermatomyositis
- Sjögren syndrome
- Systemic lupus erythematosus
- Scleroderma
- Parry–Romberg syndrome
- Degos disease (malignant atrophic papulosis)
- Evaluation and management
- Chapter 4: Neurofibromatosis type 1
- Abstract
- Introduction
- Clinical manifestations
- Genetics
- Management and treatment
- Recent advances
- Chapter 5: Neurofibromatosis type 2
- Abstract
- Introduction
- Clinical manifestations
- Pathology
- Genetics
- Management issues
- The future
- Chapter 6: Tuberous sclerosis complex
- Abstract
- Introduction
- Prevalence of tuberous sclerosis complex
- History
- Alternate terminology
- Clinical manifestations
- Neuroradiographic findings
- Neuropathology
- Differential diagnosis
- Genetics and molecular basis
- Treatment and management
- Chapter 7: Neurocutaneous melanosis
- Abstract
- Introduction
- History
- Alternate terminology
- Clinical manifestations
- Tumor potential
- Radiographic findings
- Differential diagnoses
- Pathology
- Molecular basis/pathophysiology
- Genetics
- Treatment and management
- Future directions
- Chapter 8: Basal cell nevus syndrome or Gorlin syndrome
- Abstract
- Background
- Epidemiology
- Pathogenesis
- Clinical manifestations
- Diagnosis
- Treatment and management
- Prognosis
- Support groups
- Conclusions
- Chapter 9: PTEN hamartoma tumor syndrome
- Abstract
- Introduction
- Clinical manifestations
- Pathology
- Molecular basis/pathology
- Animal models
- Genetics
- Treatment and management
- Recent advances
- Chapter 10: Von Hippel–Lindau disease
- Abstract
- Introduction
- History and clinical description
- Epidemiology
- Molecular genetics
- Central nervous system lesions
- Visceral lesions
- Screening and surveillance
- Prevention and genetic counseling
- Chapter 11: Sturge–Weber syndrome
- Abstract
- Clinical definition
- Historical perspective
- Molecular basis, histology and pathogenesis
- Clinical presentations
- Diagnosis of brain involvement
- Neurologic progression and natural history
- Treatment of sturge–weber syndrome brain involvement
- Controversies and goals for future research
- Chapter 12: PHACE(S) syndrome
- Abstract
- Introduction
- Clinical manifestations
- Pathology
- Genetics
- Treatment and management
- Chapter 13: Hereditary hemorrhagic telangiectasia
- Abstract
- Introduction
- History
- Epidemiology
- Clinical manifestations
- Pathology/pathophysiology
- Genetics
- Treatment and management
- Chapter 14: Ataxia telangiectasia
- Abstract
- Introduction and history
- Pathophysiology
- Pathology
- Neurologic presentation
- AT variants
- Imaging
- Diagnosis
- Animal models
- Treatment
- Chapter 15: Pseudoxanthoma elasticum
- Abstract
- Introduction
- History
- Clinical manifestations
- Pathology of pseudoxanthoma elasticum
- Genetics of pseudoxanthoma elasticum
- Management of pseudoxanthoma elasticum
- Chapter 16: Blue bleb rubber nevus syndrome
- Abstract
- Introduction
- Blue rubber bleb nevus syndrome
- Sporadic venous malformation
- Inherited venous malformations
- Conclusions
- Chapter 17: Fabry disease
- Abstract
- Introduction
- Clinical manifestations
- Pathology
- Molecular basis/pathophysiology
- Animal models
- Genetics and diagnosis
- Treatment and management
- Upcoming treatment options
- Chapter 18: Hutchinson–Gilford progeria syndrome
- Abstract
- Introduction
- Epidemiology
- Clinical features
- Differential diagnoses to consider
- Cardiovascular and stroke pathology
- Molecular pathogenesis
- Preclinical disease models
- Management and therapy
- Disease modifying therapy and potential future treatment strategies
- Conclusion
- Chapter 19: Encephalocraniocutaneous lipomatosis
- Abstract
- Introduction
- Case history
- Clinical manifestations
- Diagnostic criteria
- Genetics
- Differential diagnosis/variants
- Imaging
- Pathology
- Management
- Chapter 20: Incontinentia pigmenti (Bloch–Sulzberger syndrome)
- Abstract
- History and epidemiology
- Clinical stages and evolution
- Genetics
- Treatment, prospects for the future
- Chapter 21: Hypomelanosis of Ito
- Abstract
- Introduction
- History
- Clinical manifestations
- Tumor/neoplastic potential
- Differential diagnoses to consider
- Pathology
- Molecular basis/pathophysiology
- Genetics
- Treatment and management
- Conclusion
- Chapter 22: Epidermal nevus syndromes
- Abstract
- Introduction
- Overview of clinical manifestations
- Well-defined epidermal nevus syndrome with central nervous system involvement
- Overgrowth syndromes with epidermal nevi
- Epidermal nevus syndromes without associated central nervous system involvement
- Less well-defined epidermal nevi
- Discussion of extracutaneous manifestations
- Endocrine abnormalities associated with epidermal nervous syndromes
- Epidermal nevi and neoplasms
- Genetic basis and pathogenesis
- Management issues
- Chapter 23: Lipoid proteinosis
- Abstract
- Introduction
- Clinical manifestations
- Pathology
- Molecular basis/pathophysiology
- Animal models
- Genetics
- Treatment and management
- Chapter 3: Acquired neurocutaneous disorders
- No. of pages: 344
- Language: English
- Edition: 1
- Volume: 132
- Published: November 9, 2015
- Imprint: Elsevier
- Hardback ISBN: 9780444627025
- eBook ISBN: 9780444627155
MI
Monica P. Islam
Monica Islam, MD is a child neurologist with fellowship training in clinical neurophysiology and electroencephalography (EEG). She is on staff at Nationwide Children’s Hospital and Assistant Professor of Clinical Pediatrics at The Ohio State University College of Medicine. A native of Virginia, she completed her undergraduate degree at the University of Virginia and her medical degree at Eastern Virginia Medical School. Her pediatrics and child neurology training occurred at the University of Alabama at Birmingham, and her neurophysiology training took place at Wake Forest University Medical Center. She has authored several book chapters on neurocutaneous syndromes.
Affiliations and expertise
Attending Pediatric Neurologist, Nationwide Children’s Hospital, Columbus, OH, USA; Assistant Professor of Clinical Pediatrics, The Ohio State University College of Medicine, Columbus, OHER
E. Steve Roach
E. Steve Roach, MD is Professor of Pediatrics and Neurology and Vice Chair for Clinical Affairs of the Department of Pediatrics at The Ohio State University College of Medicine. He also serves as Chief of the Section of Pediatric Neurology at Nationwide Children’s Hospital. Roach has served as President of the Child Neurology Society, the main professional organization of child neurologists in North America. Roach is the Editor-in-Chief of Pediatric Neurology and a member of five other journal editorial boards. He has written eight books, including the first textbook on stroke in children, now in its third edition. He has published extensively on tuberous sclerosis complex, Sturge-Weber syndrome, and other neurocutaneous syndromes.
Affiliations and expertise
Chief of Pediatric Neurology and Vice-Chair of Pediatrics, Nationwide Children’s, Columbus, OH, USA; Professor of Pediatrics and Neurology, The Ohio State University College of Medicine, Columbus, OHRead Neurocutaneous Syndromes on ScienceDirect