Neurocutaneous Syndromes

Handbook of Clinical Neurology Series
 
 
Elsevier (Verlag)
  • 1. Auflage
  • |
  • erschienen am 9. November 2015
  • |
  • 344 Seiten
 
E-Book | ePUB mit Adobe DRM | Systemvoraussetzungen
E-Book | PDF mit Adobe DRM | Systemvoraussetzungen
978-0-444-62715-5 (ISBN)
 

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
0072-9752
  • Englisch
  • Amsterdam
  • |
  • Niederlande
Elsevier Science
  • 110,03 MB
978-0-444-62715-5 (9780444627155)
0444627154 (0444627154)
weitere Ausgaben werden ermittelt
  • Front Cover
  • Neurocutaneous Syndromes
  • Copyright
  • Handbook of Clinical Neurology 3rd Series
  • Foreword
  • Preface
  • Contributors
  • Contents
  • Section 1: Introductory Chapters
  • Chapter 1: Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes...
  • Introduction
  • Autosomal Dominant Inheritance
  • Autosomal Recessive Inheritance
  • X-linked Inheritance
  • Somatic Mosaicism
  • Germline Mosaicism
  • Genetic Counseling and Reproductive Options
  • Conclusion
  • References
  • Chapter 2: Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy
  • Introduction
  • Epidermal Nevus and Epidermal Nevus Syndrome
  • Historical Aspects and Nomenclature
  • Genetic and Embryologic Bases of Epidermal Nevus Syndrome
  • Systemic Anomalies
  • Ocular
  • Osseous and Muscular Involvement
  • Cardiovascular
  • Congenital Hemifacial Hyperplasia With Lipomatosis
  • Brain Anomalies in Sebaceous and Epidermal (keratinocytic) Nevus Syndromes
  • Hemimegalencephaly
  • Other Cerebral and Meningeal Malformations Reported in Linear Sebaceous Nevus Syndrome
  • Classification of Neurologic Phenotypes in Epidermal Nevus Syndrome
  • Linear Sebaceous Nevus Syndrome
  • Scalp Syndrome
  • Keratinocytic Epidermal Nevus Syndromes
  • Proteus Syndrome
  • Cloves Syndrome
  • Heide's Syndrome
  • Epilepsy in Keratinocytic Epidermal Nevus and Linear Sebaceous Nevus Syndromes
  • Investigation of Patients With Neurologic Phenotypes of Epidermal Nevus Syndrome
  • Neuropathologic Studies
  • References
  • Section 2: Neurocutaneous Syndromes
  • Chapter 3: Acquired neurocutaneous disorders
  • Introduction
  • Behçet's Disease
  • Etiology and Pathogenesis
  • Aphthous Oral/genital Ulcers and Other Cutaneous Lesions
  • Ocular, Vascular, and Systemic Manifestations
  • Neurologic Manifestations of Behçet's Disease
  • Diagnosis and Evaluation
  • Neuroimaging
  • Laboratory Investigations
  • Ancillary Investigations
  • Management and Prognosis
  • Dermatomyositis
  • Cutaneous Manifestations
  • Heliotrope rash
  • Grotton's Papules
  • Photodistributed Poikiloderma (``shawl Sign´´)
  • Histopathology
  • Other Cutaneous Manifestations
  • Other Manifestations
  • Atypical Presentations
  • Other Clinical Features
  • Pulmonary Disease
  • Malignancies
  • Overlap Syndrome
  • Diagnosis and Investigation
  • Evaluation
  • Laboratory Findings
  • Electromyographic Findings
  • Mri of Skeletal Muscles
  • Muscle Biopsy
  • Management
  • Sjögren Syndrome
  • Xerosis
  • Vasculitis
  • Annular Erythema
  • Neurologic Manifestations
  • Central Nervous System
  • Peripheral Nervous System, Autonomic Nervous System, Neuromuscular
  • Clinical Evaluation
  • Laboratory Investigations
  • Neuroimaging and Other Ancillary Testing
  • Management
  • Systemic Lupus Erythematosus
  • Malar rash
  • Photosensitivity
  • Discoid rash
  • Other Cutaneous Findings
  • Histopathology
  • Neuropsychiatric Systemic Lupus Erythematosus
  • Pathogenesis and Risk Factors Of Npsle
  • Stroke
  • Antiphospholipid Antibodies
  • Antiphospholipid Syndrome
  • Premature Atherosclerosis
  • Cardioembolism
  • Other Stroke Causes and Risk Factors
  • Seizures
  • Demyelinating Disease and Transverse Myelitis
  • Headache
  • Lupus Headache
  • Cognitive Dysfunction
  • Posterior Reversible Encephalopathy Syndrome
  • Other Neurologic Manifestations
  • Evaluation and Ancillary Testing
  • Management
  • Scleroderma
  • Localized Scleroderma: Morphea
  • Localized Scleroderma: Linear Morphea
  • Systemic Scleroderma: Morpheaform Lesions
  • Histopathology
  • Systemic Scleroderma: Other Associated Cutaneous Findings
  • Raynaud's Phenomenon
  • Mat Telangiectasias and Nail Fold Capillary Abnormalities
  • Dystrophic Calcinosis cutis
  • Pathophysiology
  • Neurologic Manifestations of Scleroderma
  • Cns Manifestations
  • Peripheral Nervous System/autonomic Nervous System, and Muscle Manifestations
  • Evaluation
  • Management and Prognosis
  • Parry-Romberg Syndrome
  • Etiology and Pathophysiology
  • Neurologic Manifestations
  • Neuroimaging Findings
  • Diagnosis and Management
  • Degos Disease (malignant Atrophic Papulosis)
  • Systemic and Central Nervous System Manifestations
  • Evaluation and Management
  • References
  • Chapter 4: Neurofibromatosis type 1
  • Introduction
  • History
  • Epidemiology
  • Clinical Manifestations
  • Hallmark Signs and Symptoms
  • Cutaneous Manifestations
  • Neurofibromas and Malignant Peripheral Nerve Sheath Tumors
  • Brain Tumors
  • Other Tumors
  • Neurologic Manifestations
  • Orthopedic Manifestations
  • Vascular Manifestations
  • Variants
  • Genetics
  • Molecular basis
  • Animal Models
  • Management and Treatment
  • Recent Advances
  • Advances From Neuroimaging
  • The Future of Precision Medicine
  • References
  • Chapter 5: Neurofibromatosis type 2
  • Introduction
  • Clinical Manifestations
  • Radiographic Findings
  • Pathology
  • Genetics
  • Modifying Factors
  • Management Issues
  • Drug Therapy
  • The Future
  • References
  • Chapter 6: Tuberous sclerosis complex
  • Introduction
  • Prevalence of Tuberous Sclerosis Complex
  • History
  • Alternate Terminology
  • Clinical Manifestations
  • Skin Manifestations
  • Ophthalmic Manifestations
  • Oral Lesions
  • Renal Manifestations
  • Cardiovascular Manifestations
  • Pulmonary Manifestations
  • Neurologic Manifestations
  • Neuroradiographic Findings
  • Neuropathology
  • Differential Diagnosis
  • Genetics and Molecular basis
  • Treatment and Management
  • References
  • Chapter 7: Neurocutaneous melanosis
  • Introduction
  • History
  • Alternate Terminology
  • Clinical Manifestations
  • Skin
  • Nervous System
  • Ophthalmologic
  • Other
  • Tumor Potential
  • Radiographic Findings
  • Differential Diagnoses
  • Pathology
  • Molecular Basis/pathophysiology
  • Genetics
  • Treatment and Management
  • Future Directions
  • References
  • Chapter 8: Basal cell nevus syndrome or Gorlin syndrome
  • Background
  • Epidemiology
  • Pathogenesis
  • Clinical Manifestations
  • Dermatologic Manifestations
  • Basal Cell Carcinoma
  • Milia
  • Palmar and Plantar pits
  • Skeletal Manifestations
  • Odontogenic Keratocysts
  • Musculoskeletal and Radiographic
  • Central Nervous System Manifestations
  • Genitourinary System Manifestations
  • Cardiac Manifestations
  • Renal Manifestations
  • Gastrointestinal Manifestations
  • Other Tumors
  • Diagnosis
  • Diagnostic Criteria
  • Differential Diagnosis
  • Genetic Counseling
  • Antenatal Diagnosis
  • Treatment and Management
  • Basal Cell Carcinoma
  • Keratocyst
  • Medulloblastoma
  • Prognosis
  • Support Groups
  • Conclusions
  • References
  • Chapter 9: PTEN hamartoma tumor syndrome
  • Introduction
  • History
  • Origin of The name
  • Epidemiology
  • Clinical Manifestations
  • Typical Age of Presentation, Progression, Life Expectancy
  • Hallmark Signs and Symptoms
  • Involvement By Systems
  • Central Nervous System
  • Dermatologic/mucosal Involvement
  • Breast
  • Thyroid/endocrine
  • Genitourinary
  • Vascular
  • Gastrointestinal
  • Tumor/neoplastic Potential
  • Imaging
  • Differential Diagnoses to Consider
  • Pathology
  • Molecular Basis/pathology
  • Animal Models
  • Genetics
  • Treatment and Management
  • Recent Advances
  • References
  • Chapter 10: Von Hippel-Lindau disease
  • Introduction
  • History and Clinical Description
  • History
  • Diagnostic Criteria
  • Epidemiology
  • Molecular Genetics
  • The Vhl gene
  • The Vhl Protein
  • Tumorigenesis In Vhl
  • Mechanism of Vhl Gene Inactivation
  • Genotype-phenotype Correlation
  • Genetic Testing
  • Central Nervous System Lesions
  • Central Nervous System Hemangioblastomas
  • General Features
  • Clinical, Imaging, and Histologic Findings
  • Treatment
  • Effect of Pregnancy
  • Retinal Hemangioblastomas
  • General Features
  • Clinical Findings
  • Fundoscopic Evaluation
  • Histologic Findings
  • Treatment
  • Endolymphatic Sac Tumors
  • General Features
  • Clinical
  • Imaging
  • Histologic Findings
  • Treatment
  • Visceral Lesions
  • Renal Cell Carcinomas and Renal cysts
  • General Features
  • Clinical
  • Imaging
  • Histologic Features
  • Treatment
  • Pheochromocytomas
  • General Features
  • Clinical
  • Laboratory and Imaging Findings
  • Perioperative Management
  • Treatment
  • Pancreatic Neuroendocrine Tumors And cysts
  • General Features
  • Clinical
  • Imaging
  • Histologic Features
  • Treatment
  • Epididymal Cystadenomas
  • General Features
  • Clinical, Imaging, and Histologic Findings
  • Treatment
  • Broad Ligament Cystadenomas
  • General Features
  • Clinical, Imaging, and Histologic Findings
  • Treatment
  • Screening and Surveillance
  • Screening For Vhl
  • Surveillance
  • Prevention and Genetic Counseling
  • References
  • Resources
  • Chapter 11: Sturge-Weber syndrome
  • 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
  • Acknowledgments
  • References
  • Chapter 12: PHACE(S) syndrome
  • Introduction
  • History
  • Origin of The name
  • Epidemiology
  • Clinical Manifestations
  • Typical Age of Presentation
  • Hallmark Signs and Symptoms
  • Involvement By Systems
  • Brain Anomalies
  • Cerebral Vascular Anomalies
  • Cardiac and Aortic Malformations
  • Eye Abnormalities
  • Sternal Clefting and Supraumbilical raphe
  • Imaging
  • Pathology
  • Genetics
  • Treatment and Management
  • Diagnostic Approach
  • Treatment
  • References
  • Chapter 13: Hereditary hemorrhagic telangiectasia
  • Introduction
  • History
  • Epidemiology
  • Clinical Manifestations
  • Early Symptoms
  • Pulmonary
  • Neurologic
  • Gastrointestinal
  • Heart
  • Ears, Nose, and Throat
  • Skin
  • Life Expectancy
  • Hht and Juvenile Polyposis Variant
  • Differential Diagnosis
  • Pathology/pathophysiology
  • Genetics
  • Treatment and Management
  • Pulmonary
  • Neurologic
  • Gastrointestinal
  • Ears, Nose, and Throat
  • Targeted Drug Therapy
  • References
  • Chapter 14: Ataxia telangiectasia
  • Introduction and History
  • Pathophysiology
  • Pathology
  • Neurologic Presentation
  • Cerebellar
  • Eye Movements
  • Extrapyramidal
  • Neuropathy and Motor Neuron Involvement
  • Cognitive and Scholastic
  • Head Circumference
  • Cutaneous
  • Malignancy
  • Immune Deficiency, Recurrent Infections, and Pulmonary Disease
  • Other
  • At Variants
  • Imaging
  • Diagnosis
  • Differential Diagnosis
  • Animal Models
  • Treatment
  • References
  • Chapter 15: Pseudoxanthoma elasticum
  • Introduction
  • History
  • Clinical Manifestations
  • Dermatologic Features
  • Ophthalmologic Features
  • Cerebrovascular Dysfunction
  • Other Concerns
  • Differential Diagnosis
  • Pathology of Pseudoxanthoma Elasticum
  • Genetics of Pseudoxanthoma Elasticum
  • Management of Pseudoxanthoma Elasticum
  • References
  • Chapter 16: Blue bleb rubber nevus syndrome
  • Introduction
  • Venous Malformations as Part of a Syndrome
  • Blue Rubber Bleb Nevus Syndrome
  • Clinical Presentation
  • Histopathology and Genetics
  • Management
  • Therapeutic Strategy
  • Sporadic Venous Malformation
  • Clinical Features
  • Histopathology and Genetics
  • Therapeutic Strategy
  • Inherited Venous Malformations
  • Cutaneomucosal Venous Malformation
  • Histopathology and Genetics
  • Therapeutic Strategy
  • Glomuvenous Malformation
  • Histopathology and Genetics
  • Therapeutic Strategy
  • Conclusions
  • References
  • Chapter 17: Fabry disease
  • Introduction
  • History
  • Epidemiology
  • Clinical Manifestations
  • Typical Age of Presentation, Progression, Life Expectancy
  • Hallmark Signs and Symptoms
  • Classic Abnormalities
  • Other Abnormalities
  • Effect of Sex on Clinical Disease
  • Disease Modifiers
  • Fabry Trait as a Genetic Risk factor
  • Imaging
  • Variants
  • Differential Diagnoses to Consider
  • Pathology
  • Molecular Basis/pathophysiology
  • Animal Models
  • Genetics and Diagnosis
  • Treatment and Management
  • Specific Therapy
  • Nonspecific Therapy
  • Upcoming Treatment Options
  • References
  • Chapter 18: Hutchinson-Gilford progeria syndrome
  • Introduction
  • History
  • Epidemiology
  • Clinical Features
  • Overview of Disease Course
  • Dermatologic Changes
  • Failure to Thrive
  • Neurologic Features
  • Craniofacial Features
  • Brain and Cerebrovascular Manifestations Of Hgps
  • Bone and Cartilaginous Abnormalities
  • Normally Functioning Systems
  • Genetic Testing
  • Variant Presentations/genetically Related Allelic Disorders
  • Differential Diagnoses to Consider
  • Cardiovascular and Stroke Pathology
  • Molecular Pathogenesis
  • LMNA
  • Preclinical Disease Models
  • In vitro Assays
  • Animal Models
  • Stem cells
  • Management and Therapy
  • General Guidelines and Management
  • Surveillance
  • Management of Neurologic Issues/cerebrovascular Disease
  • Headaches
  • Disease Modifying Therapy and Potential Future Treatment Strategies
  • Farnesyltransferase Inhibitors
  • Statins and Aminobisphosphonates
  • Methylation Inhibitors
  • Aging Treatment Repurposing: Rapamycin and Resveratrol
  • RNA and Gene Therapy
  • Stem Cell Therapy
  • Conclusion
  • References
  • Chapter 19: Encephalocraniocutaneous lipomatosis
  • Introduction
  • Case History
  • Clinical Manifestations
  • Diagnostic Criteria
  • Genetics
  • Differential Diagnosis/variants
  • Imaging
  • Pathology
  • Management
  • References
  • Chapter 20: Incontinentia pigmenti (Bloch-Sulzberger syndrome)
  • History and Epidemiology
  • Clinical Stages and Evolution
  • Dental Features
  • Ophthalmologic Features
  • Neurologic Involvement
  • Genetics
  • Gene Mapping
  • Gene Identification
  • Mutation Spectrum, Genotype-phenotype Correlation
  • Allelic Disorders
  • Skewed X-inactivation and Selection Against Mutant Alleles
  • Molecular Mechanisms - IKKgamma/NEMO, IKKS, IkappaB, NF-kappaB
  • Treatment, Prospects for the Future
  • References
  • Chapter 21: Hypomelanosis of Ito
  • Introduction
  • History
  • Origin of The name
  • Epidemiology
  • Clinical Manifestations
  • Typical Age of Presentation, Diagnostic Criteria
  • Hallmark Signs and Symptoms
  • Multisystem Involvement
  • Brain
  • Musculoskeletal
  • Skin/scalp/hair
  • Eye
  • Oral
  • Cardiac
  • Genitourinary
  • Endocrine
  • Vascular
  • Tumor/neoplastic Potential
  • Differential Diagnoses to Consider
  • Pathology
  • Molecular Basis/pathophysiology
  • Genetics
  • Treatment and Management
  • Conclusion
  • References
  • Chapter 22: Epidermal nevus syndromes
  • Introduction
  • Overview of Clinical Manifestations
  • Cutaneous Features
  • Central Nervous System
  • Other Extracutaneous Features
  • Well-defined Epidermal Nevus Syndrome With Central Nervous System Involvement
  • Nevus Sebaceus
  • Clinical Features
  • Histopathology
  • Molecular Genetics and Pathophysiology
  • Keratinocytic Epidermal nevi
  • Clinical Features
  • Histopathology
  • Molecular Genetics and Pathophysiology
  • Nevus Comedonicus
  • Clinical Features
  • Histopathology
  • Molecular Genetics and Pathophysiology
  • Phacomatosis Pigmentokeratotica
  • Clinical Features
  • Molecular Genetics and Pathophysiology
  • Congenital Hemidysplasia With Ichthyosiform Nevus and Limb Defects (Child) Syndrome
  • Clinical Features
  • Histopathology
  • Molecular Genetics and Pathophysiology
  • Overgrowth Syndromes With Epidermal nevi
  • Proteus Syndrome
  • Clinical Features
  • Molecular Genetics and Pathophysiology
  • CLOVES Syndrome
  • Clinical Features
  • Molecular Genetics and Pathophysiology
  • SOLAMEN Syndrome
  • Clinical Features
  • Histopathology
  • Molecular Genetics and Pathophysiology
  • Epidermal Nevus Syndromes Without Associated Central Nervous System Involvement
  • Becker's Nevus (pigmented Hairy Epidermal nevus)
  • Clinical Features
  • Histopathology
  • Inflammatory Linear Verrucous Epidermal Nevus (ILVEN)
  • Clinical Features
  • Histology
  • Porokeratotic Eccrine Ostial and Dermal Duct Nevus (PEODDN)
  • Clinical Features
  • Less well-defined Epidermal nevi
  • Discussion of Extracutaneous Manifestations
  • Central Nervous System
  • Ocular
  • Skeletal
  • Oral
  • Other Extracutaneous Manifestations
  • Endocrine Abnormalities Associated With Epidermal Nervous Syndromes
  • Epidermal Nevi and Neoplasms
  • Genetic Basis and Pathogenesis
  • Management Issues
  • References
  • Chapter 23: Lipoid proteinosis
  • Introduction
  • History
  • Origin of The name
  • Epidemiology
  • Clinical Manifestations
  • Hallmark Signs and Symptoms
  • Involvement By Systems
  • Intracranial Calcification
  • Dysfunctional Amygdala
  • Memory
  • Panic Attacks
  • Neuropsychological Abnormalities
  • Tumor/neoplastic Potential
  • Imaging
  • Variants
  • Differential Diagnoses
  • Pathology
  • Molecular Basis/pathophysiology
  • Animal Models
  • Genetics
  • Treatment and Management
  • The General Approach
  • Therapeutic Interventions
  • References
  • Index
  • Back Cover

Dateiformat: EPUB
Kopierschutz: Adobe-DRM (Digital Rights Management)

Systemvoraussetzungen:

Computer (Windows; MacOS X; Linux): Installieren Sie bereits vor dem Download die kostenlose Software Adobe Digital Editions (siehe E-Book Hilfe).

Tablet/Smartphone (Android; iOS): Installieren Sie bereits vor dem Download die kostenlose App Adobe Digital Editions (siehe E-Book Hilfe).

E-Book-Reader: Bookeen, Kobo, Pocketbook, Sony, Tolino u.v.a.m. (nicht Kindle)

Das Dateiformat EPUB ist sehr gut für Romane und Sachbücher geeignet - also für "fließenden" Text ohne komplexes Layout. Bei E-Readern oder Smartphones passt sich der Zeilen- und Seitenumbruch automatisch den kleinen Displays an. Mit Adobe-DRM wird hier ein "harter" Kopierschutz verwendet. Wenn die notwendigen Voraussetzungen nicht vorliegen, können Sie das E-Book leider nicht öffnen. Daher müssen Sie bereits vor dem Download Ihre Lese-Hardware vorbereiten.

Weitere Informationen finden Sie in unserer E-Book Hilfe.


Dateiformat: PDF
Kopierschutz: Adobe-DRM (Digital Rights Management)

Systemvoraussetzungen:

Computer (Windows; MacOS X; Linux): Installieren Sie bereits vor dem Download die kostenlose Software Adobe Digital Editions (siehe E-Book Hilfe).

Tablet/Smartphone (Android; iOS): Installieren Sie bereits vor dem Download die kostenlose App Adobe Digital Editions (siehe E-Book Hilfe).

E-Book-Reader: Bookeen, Kobo, Pocketbook, Sony, Tolino u.v.a.m. (nicht Kindle)

Das Dateiformat PDF zeigt auf jeder Hardware eine Buchseite stets identisch an. Daher ist eine PDF auch für ein komplexes Layout geeignet, wie es bei Lehr- und Fachbüchern verwendet wird (Bilder, Tabellen, Spalten, Fußnoten). Bei kleinen Displays von E-Readern oder Smartphones sind PDF leider eher nervig, weil zu viel Scrollen notwendig ist. Mit Adobe-DRM wird hier ein "harter" Kopierschutz verwendet. Wenn die notwendigen Voraussetzungen nicht vorliegen, können Sie das E-Book leider nicht öffnen. Daher müssen Sie bereits vor dem Download Ihre Lese-Hardware vorbereiten.

Weitere Informationen finden Sie in unserer E-Book Hilfe.


Download (sofort verfügbar)

238,00 €
inkl. 19% MwSt.
Download / Einzel-Lizenz
ePUB mit Adobe DRM
siehe Systemvoraussetzungen
PDF mit Adobe DRM
siehe Systemvoraussetzungen
Hinweis: Die Auswahl des von Ihnen gewünschten Dateiformats und des Kopierschutzes erfolgt erst im System des E-Book Anbieters
E-Book bestellen

Unsere Web-Seiten verwenden Cookies. Mit der Nutzung des WebShops erklären Sie sich damit einverstanden. Mehr Informationen finden Sie in unserem Datenschutzhinweis. Ok