Neurocutaneous Disorders - Phakomatoses and Hamartoneoplastic Syndromes

di Ruggieri - Pascual Castroviejo - Di Rocco • 2008 • dettagli prodotto

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DESCRIZIONE

Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis, while for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology as well as updated genotype-phenotype correlations. This book provides a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses, making it the most comprehensive reference work available. Aimed primarily at clinicians and graduate researchers, this essential text bridges the gap between clinical recognition and the new molecular medicine. The problematic diagnosis of these conditions makes this comprehensive coverage essential reference material for clinicians. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the very same experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.