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 substantially.
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.
The aim of this volume is to provide an updated developmental perspective on these multi-faceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols, and novel therapeutic approaches.
This monograph provides the essential data about these rare conditions for child neurologists, paediatricians, dermatologists, and geneticists.