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(s): Christos P. Panteliadis, Ramsis Benjamin, Christian Hagel
Edition: 3
Publisher: Springer
Year: 2022
Language: English
Pages: 573
City: Cham
Preface to the Third Edition
Preface (Parts from First Edition)
Preface to the Second Edition
Contents
Introduction
Historical Note
The Spectrum of Neurocutaneous Disorders
Development of the Neural Crest
The Book’s Purpose
References
Part I: Aetiology and Diagnostics of Neurocutaneous Disorders
Chapter 1: Genetics of Neurocutaneous Syndromes
Mendelian Inheritance
Mosaicism
Diagnosis
Relevant Databases
References
Chapter 2: Superimposed Mosaicism in Neurocutaneous Syndromes
General Considerations
Neurofibromatosis Type 1 (NF1)
Neurofibromatosis Type 2 (NF2)
Legius Syndrome
Tuberous Sclerosis Complex (TSC)
PTEN Hamartoma Syndrome (Cowden Disease Included)
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Final Remark
References
Chapter 3: Neuroimaging and Sonography of Neurocutaneous Disorders
Neuroradiology and Magnetic Resonance Imaging of Neurocutaneous Disorders
Neurofibromatosis Type 1
Brain Findings
Optic Gliomas
Non-optic Glial Tumors
Vascular Alterations
Scull Abnormalities
Skeletal-Dural Abnormalities
Neoplasms
Neurofibromatosis Type 2
Meningiomas
Ependymomas
Tuberous Sclerosis
CNS Manifestations
Visceral Manifestations
Sturge-Weber Syndrome
Von Hippel-Lindau Disease
Ataxia Telangiectasia (Louis-Bar Syndrome)
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
Klippel-Trénaunay Syndrome
MR Neurography: Neurofibromatosis Type 2 and Schwannomatosis
Introduction
Application of High-Resolution Magnetic Resonance Neurography for Distinction of Different Subtypes of Neurofibromatosis
Differentiation of Sporadic vs. Tumor Predisposition Syndrome-Associated Peripheral Nerve Sheath Tumors
MRN in Neurofibromatosis Subtypes
Neurosonography Evaluation of Neurocutaneous Disorders
Introduction
Advantages to Sonography
Fetal Ultrasound
Neurosonography
Transfontanellar Neurosonography
Neoplasms
Developmental Abnormalities
Transcranial Doppler
Spinal Sonography
Peripheral Nerve Sonography
Ocular Sonography
Cutaneous Sonography
Body Sonography
References
Chapter 4: Neuropathology of Neurocutaneous Disorders
Neurofibromatosis Type 1 (NF1)
Neurofibromatosis Type 2 (NF2)
Schwannomatosis
Tuberous Sclerosis Complex
Sturge-Weber Syndrome
Ataxia-Telangiectasia (Louis-Bar Syndrome)
Von Hippel-Lindau Disease
Nevoid Basal Cell Carcinoma (Gorlin-Goltz Syndrome)
Epidermal Nevus Syndrome
Linear Nevus Sebaceous Syndrome
Encephalocraniocutaneous Lipomatosis
Lhermitte-Duclos Disease and Cowden Disease
Menkes Disease
Refsum Disease
Marinesco-Sjögren Syndrome
Incontinentia Pigmenti
Lipoid Proteinosis
Cerebrotendinous Xanthomatosis
Neurocutaneous Melanosis
Chediak-Higashi Syndrome
Cerebello-Trigeminal-Dermal Dysplasia
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome
Fucosidosis
Xeroderma Pigmentosum/Cockayne Syndrome Complex
Fabry Disease
Dyskeratosis Congenita
Oculocerebrocutaneous Syndrome (Delleman Syndrome)
PHACE Syndrome
Proteus Syndrome
Klippel-Trenaunay Syndrome
Hypomelanosis of Ito
Sjögren-Larsson Syndrome
References
Part II: Developmental Malformations
Chapter 5: Sturge-Weber Syndrome
Introduction
Clinical Characteristics
Skin Involvement
Eye Involvement
Brain Involvement
Endocrine Involvement
Pathology (See Chap. 4)
Diagnosis
Therapy
Prognosis
Recent Treatment Trials and Future Prospects
References
Chapter 6: Ataxia-Telangiectasia (Louis-Bar Syndrome)
Introduction
Pathogenesis
Clinical Characteristics
Diagnosis
Therapy
Prognosis
References
Chapter 7: Hypomelanosis of Ito (Incontinentia Pigmenti Achromians)
Introduction
Clinical Characteristics
Diagnosis
Therapy
References
Chapter 8: Incontinentia Pigmenti
Introduction
Clinical Characteristics
Skin
Central Nervous System
Ocular
Dental and Oral
Hair
Nails
Other
Diagnosis
Clinical Diagnosis
Molecular Diagnosis
Therapy and Prognosis
References
Chapter 9: Klippel-Trénaunay Syndrome (Klippel-Trénaunay-Weber Syndrome)
Introduction
Clinical Characteristics
Diagnosis
Therapy
Prognosis
References
Chapter 10: Epidermal Nevus Syndromes
Introduction
Well-Defined Epidermal Nevus Syndromes with Central Nervous System Involvement
Nevus Sebaceous
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Keratinocytic Epidermal Nevi
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Nevus Comedonicus
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Phacomatosis Pigmentokeratotica
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects (CHILD) Syndrome
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Overgrowth Syndromes with Epidermal Nevi
Proteus Syndrome
Clinical Characteristics
Molecular Genetics and Pathophysiology
Treatment
CLOVES Syndrome
Clinical Characteristics
Molecular Genetics and Pathophysiology
Treatment
SOLAMEN Syndrome
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Epidermal Nevus Syndromes Without Central Nervous System Involvement
Becker’s Nevus
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Inflammatory Linear Verrucous Epidermal Nevus (ILVEN)
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Porokeratotic Eccrine Ostia and Dermal Duct Nevus
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Nevoid Acanthosis Nigricans or RAVEN (Rounded and Velvety Epidermal Nevus)
Clinical Characteristics
Histopathology
Molecular Genetics and Pathophysiology
Treatment
Endocrine Manifestations of Epidermal Nevus Syndromes
Clinical Features
Molecular Genetics and Pathophysiology
Treatment
References
Chapter 11: Neurocutaneous Melanosis
Introduction
Pathophysiology
Clinical Characteristics
Neurologic Involvement
Diagnosis
Management
Prognosis
References
Chapter 12: Hereditary Haemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
Introduction
Clinical Characteristics
Pathogenesis
Diagnosis
Therapy
Prognosis
References
Chapter 13: Cowden Disease, Lhermitte-Duclos Disease, and Bannayan-Riley-Ruvalcaba Syndrome
Introduction
Clinical Characteristics
Diagnosis
Therapy
References
Chapter 14: Spinal Arteriovenous Metameric Syndrome (Cutaneomeningospinal Angiomatosis or Cobb Syndrome)
Introduction
Clinical Characteristics
Diagnosis
Therapy
Prognosis
References
Chapter 15: Cutis Marmorata Telangiectatica Congenita (Van Lohuizen’s Syndrome)
Introduction
Clinical Characteristics
Diagnosis
Therapy
References
Chapter 16: Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)
Introduction
Clinical Characteristics
Diagnosis
Therapy
References
Chapter 17: LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa)
Introduction
Pathogenesis
Clinical Characteristics
Diagnosis
Management
References
Chapter 18: MIDAS Syndrome (Microphthalmia with Linear Skin Defects)
Introduction
Clinical Characteristics
Therapy
References
Chapter 19: Oculocerebrocutaneous Syndrome (Delleman-Oorthuys Syndrome)
Introduction
Clinical Characteristics
Diagnostic Criteria
Therapy
References
Chapter 20: Oral-Facial-Digital Syndrome
Introduction
Pathogenesis
Clinical Characteristics
Therapy
References
Chapter 21: PHACE Syndrome
Introduction
Pathogenesis
Clinical Characteristics
Diagnosis
Therapy
References
Chapter 22: Proteus Syndrome
Introduction
Genetics
Clinical Characteristics
Therapy and Prognosis
References
Chapter 23: Wyburn-Mason Syndrome (Bonnet-Dechaume-Blanc Syndrome)
Introduction
Clinical Characteristics
Therapy
References
Chapter 24: Cerebello-Trigemino-Dermal Dysplasia (Gomez-López-Hernández Syndrome)
Introduction
Clinical Characteristics
Therapy
References
Chapter 25: Vascular Tumours (Haemangiomas)
Introduction
Epidemiology
Clinical Characteristics
Diagnosis and Differential Diagnosis
Management
Cryotherapy
Laser Therapy
Flashlamp-Pulsed Dye Laser (FPDL)
CW Nd/YAG Laser
Plastic Surgery Treatment
Systemic Propranolol Treatment
Topical Propranolol Treatment
Other Drug Treatment Options
Special Types of Vascular Tumours
Segmental Haemangiomas in the “Beard Area”
Haemangiomatosis
Rapid Involuting Congenital Haemangioma (RICH)/Non-involuting Congenital Haemangioma (NICH)
Haemangiomas in Association with Syndromes
Vascular Tumours with Histological Specifics and/or Tendency to Develop Kasabach-Merritt Syndrome
Vascular Tumours Acquired After Birth
References
Part III: Tumour Suppressor/DNA-Repair Disorders
Chapter 26: Neurofibromatosis I and II
Neurofibromatosis I (NF1) (von Recklinghausen Disease)
History of NF1
Epidemiology
Special Aspects of Inheritance: Microdeletions and Segmental NF1
Diagnostic Criteria
Clinical Characteristics of NF1 in Children
Clinical Characteristics of NF1 in Adults
Clinical Management
Differential Diagnostics of NF1
Neurofibromatosis II (NF2)
History of NF2
Epidemiology
Genetics
Genotype-Phenotype Correlation
Diagnostic Criteria
Clinical Characteristics
Differential Diagnosis
Management and Therapy
Medical Treatment
References
Chapter 27: Tuberous Sclerosis (Bourneville Disease)
Introduction
Genetics (Also See Chap. 1)
Signalling Pathways Affected in TSC
Clinical Characteristics
Diagnosis
Management
Prognosis
References
Chapter 28: Angiomatosis of the Retina and the Cerebellum (von Hippel-Lindau Syndrome)
Introduction
Clinical Characteristic
Haemangioblastoma
Phaeochromocytoma and Other Tumours
Retinal Angiomas
Diagnosis
Therapy
Prognosis
References
Chapter 29: Gorlin-Goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome)
Introduction
Clinical Characteristics
Skin
Genetics
Orbit and Eye
Jaw Cysts
Other Findings
Diagnosis
Therapy and Prognosis
Prevention
References
Chapter 30: Cockayne Syndrome
Introduction
Epidemiology
Clinical Characteristics
Pathology
Diagnosis
Management
Prognosis
References
Chapter 31: Xeroderma Pigmentosum (Kaposi Dermatosis)
Introduction
Clinical Characteristics
Cutaneous Involvement
Ocular Involvement
Neurological Involvement
Other Neoplasia
Pathogenesis
Differential Diagnosis
Diagnosis
Therapy
Prognosis
Bibliography
Part IV: Defects of Enzymes and Structural Proteins
Chapter 32: Cerebrotendinous Xanthomatosis
Introduction
Clinical Characteristics
Pathogenesis
Diagnosis/Differential Diagnosis
Therapy
Bibliography
Chapter 33: Chédiak-Higashi Syndrome
Clinical Characteristics
Pathogenesis
Diagnosis
Therapy
Prognosis
References
Chapter 34: Child Syndrome
Introduction
Pathogenesis
Clinical Characteristics
Diagnosis
Therapy
References
Chapter 35: Dorfman-Chanarin Syndrome
Introduction
Clinical Characteristics
Diagnosis
Therapy
References
Chapter 36: Ehlers-Danlos Syndrome
Introduction
Pathogenesis
Clinical Characteristics
Subtypes 1–6
Diagnosis
Therapy
References
Chapter 37: Ichthyosis-Trichothiodystrophy Syndrome
Introduction
Ichthyoses
Therapy
Trichothiodystrophy
Clinical Characteristics
Tay Syndrome
Management
References
Chapter 38: Rud Syndrome
Introduction
Clinical Characteristics
Therapy
References
Chapter 39: KID/HID Syndrome
Introduction
Clinical Characteristics
Therapy
References
Chapter 40: Hutchinson-Gilford Progeria Syndrome
Introduction
Clinical Characteristics
Diagnosis
Therapy and Prognosis
References
Chapter 41: Lipoid Proteinosis (Urbach-Wiethe Syndrome)
Introduction
Clinical Characteristics
Therapy and Prognosis
References
Chapter 42: McCune-Albright Disease
Introduction
Clinical Characteristics
Pathogenesis
Endocrinopathy
Polyostotic Fibrous Dysplasia
Café-au-lait Spots
Diagnosis
Therapy
Prognosis
References
Chapter 43: Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)
Introduction
Clinical Characteristics
Pathophysiology
Diagnosis
Therapy
References
Chapter 44: Refsum Disease (Heredopathia Atactica Polyneuritiformis)
Introduction
Clinical Characteristics
Diagnosis
Therapy and Prognosis
References
Chapter 45: Sjögren-Larsson Syndrome
Introduction
Pathogenesis
Clinical Characteristics
Neuro-Ocular Involvement
Diagnosis
Therapy
References
Chapter 46: Fabry Disease
Introduction
Clinical Characteristics
Pathogenesis
Diagnosis
Therapy
Conclusion
References
Part V: Specific Aspects in the Management of Neurocutaneous Disorders
Chapter 47: Ocular Manifestations of Neurocutaneous Syndromes
Neurofibromatosis 1 (NF1)
Neurofibromatosis 2 (NF2)
Tuberous Sclerosis
Sturge-Weber Syndrome
Von Hippel-Lindau Disease
Ataxia-Telangiectasia
References
Chapter 48: Neurosurgical Management of Neurocutaneous Disorders
Neurofibromatosis (NF1, NF2)
Clinical Characteristics
Management
Tuberous Sclerosis Complex (TSC)
Clinical Characteristics
Management
Sturge-Weber Syndrome
Clinical Characteristics
Management
Angiomatosis of the Retina and Cerebellum (Von Hippel-Lindau Disease)
Clinical Characteristics
Management
Neurocutaneous Melanocytosis (NCM)
Clinical Characteristics
Management
Conclusion
References
Chapter 49: Presurgical Evaluation of Children with Tuberous Sclerosis Complex and Epilepsy
Introduction
Infantile Spasms
Age at Epilepsy Onset and Age at Surgery
Structural Imaging
Functional Imaging
Electrophysiological Data
Indication and Methods of Invasive Exploration
Conclusion
References
Chapter 50: Managing Epilepsy in Neurocutaneous Disorders
Introduction
Epilepsy in Tuberous Sclerosis Complex
Infantile Spasms
Epilepsy in Sturge-Weber Syndrome
Epilepsy in Neurofibromatosis Type 1
Other Neurocutaneous Disorders
References
Chapter 51: Orthopaedic Problems in Neurocutaneous Disease
Introduction
Neurofibromatosis Type 1
Orthopaedic Problems
Orthopaedic Management
Ataxia-Telangiectasia
Orthopaedic Problems
Orthopaedic Management
Hypomelanosis of Ito
Orthopaedic Problems
Orthopaedic Management
Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)
Orthopaedic Problems
Orthopaedic Management
Klippel-Trenaunay Syndrome
Orthopaedic Problems.
Orthopaedic Management
Epidermal Naevus Syndrome
Orthopaedic Problems
Orthopaedic Management
LEOPARD Syndrome
Orthopaedic Problems
Orthopaedic Management
Orthopaedic Management in General
References
Chapter 52: Improving Quality of Life in the Neurocutaneous Syndromes
Introduction
How Quality of Life Is Affected in Neurocutaneous Syndromes
How Does One Improve the Quality of Life Affecting Both Patients and Their Families Affected by Neurocutaneous Syndromes?
Genomics (See Chap. 1)
Disease-Specific Complications
General Health
Psychological Well-Being
Intellectual Disability
Transition
The Psychosocial Domain
Clinical Vignette 1
Action
Clinical Vignette 2
Conclusion
References
