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Neurocutaneous syndromes have been in the medical literature since at least the third century BC. They include a large group of neurological disorders that feature cutaneous and eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric syndromes and seizures. They are encountered and treated by physicians in the neonatal nursery, and in pediatric, adult and geriatric neurology practices. The neurocutaneous syndromes represent several classic neurological syndromes including neurofibromatosis type 1 (von Recklinghausen disease), tuberous sclerosis (Bourneville disease), angiokeratoma corporis diffusum (Fabry disease), von Hippel–Lindau syndrome, ataxia–telangiectasia, cerebrotendinous xanthomatosis, xeroderma pigmentosum, kinky hair syndrome (Menkes disease), hyperuricemia – selfmutilation – hypoxanthine–guanine phosphoribosyltransferase deficiency (Lesch–Nyhan disease), Ehlers–Danlos syndrome, Sturge–Weber syndrome, and others.
In The Neurocutaneous Disorders, editors Steve Roach and Van Miller have taken a fresh approach to these venerable neurological disorders by emphasizing in the selection of authors and topics what needs now to be emphasized – the cellular, biochemical and molecular genetic basis of these syndromes. ‘The Genetics of Neurocutaneous Syndromes’ by Au and Northrup sets the positive orientation for the book by comprehensively reviewing the clinical and molecular–genetic basis of these syndromes as autosomal dominant, autosomal recessive, X-linked, genetic heterogeneous, and genetic mosaic disorders in clear and precise terms. They point out the essential need for a genotype nosology in these complex disorders. A single phenotype can sometimes be caused by several genotypes, and one genotype can express several phenotypes.