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VOLUME 15
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.
CONTENTS
Embryological basis of the neurocutaneous syndromes
Neurocutaneous diseases in children and adolescents: general clinical pattern
Hypomelanosis of Ito
Vascular malformations and neurocutaneous disorders
Neurocutaneous syndromes and hemimegalencephaly
Two rare neurocutaneous syndromes: Wyburn-Mason and Proteus
Diagnostic criteria and evaluation of patients with tuberous sclerosis complex
Epileptic manifestations in tuberous sclerosis
Tuberous sclerosis complex: phenotype-genotype correlations
Subependymal giant cell astrocytomas and tuberous sclerosis
Neurosurgical strategies in the management of subependymal giant cell tumors in tuberous sclerosis complex
The neurofibromatoses. Clinical manifestations, natural history and management
Neurofibromatosis type 1. The dermatological option
Clinical molecular genetics of the neurofibromatosis type 1
Cognitive-behavioral phenotype and neurobiological basis of neurofibromatosis type 1
Brain tumors in neurofibromatosis type 1
Novel therapeutic approaches for plexiform neurofibromas in neurofibromatosis type 1
Adjuvant therapy for low-grade glioma in neurofibromatosis type 1
Diagnostic and follow-up protocols for neurofibromatosis type 1 and 2