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This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treament. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.

Neurofibromatosis. --- Recklinghausen's disease --- Von Recklinghausen's disease --- Neurofibroma --- Phakomatoses --- Dermatology. --- Pediatrics. --- Human genetics. --- Neurology . --- Oncology  . --- General practice (Medicine). --- Human Genetics. --- Neurology. --- Oncology. --- General Practice / Family Medicine. --- Tumors --- Medicine --- Nervous system --- Neuropsychiatry --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Paediatrics --- Pediatric medicine --- Children --- Skin --- Diseases --- Health and hygiene --- Neurofibromatosi --- Malalties de la pell --- Malalties hereditàries --- Diagnòstic --- Terapèutica --- Teràpia --- Tractament (Medicina) --- Tractament de les malalties --- Medicina clínica --- Al·lopatia (Terapèutica) --- Antipirètics --- Cateterisme --- Dietoteràpia --- Fisioteràpia --- Fórmules magistrals --- Hormonoteràpia --- Immunoteràpia --- Injeccions intraarticulars --- Intubació --- Ioga --- Logopèdia --- Medicina alternativa --- Nutrició --- Quimioteràpia --- Radiologia intervencionista --- Terapèutica dental --- Terapèutica fisiològica --- Teràpia genètica --- Teràpia intravenosa --- Teràpia respiratòria --- Terapèutica veterinària --- Tractament pal·liatiu --- Ús terapèutic --- Diagnosi --- Diagnòstic físic --- Examen mèdic (Diagnòstic) --- Exploració médica (Diagnòstic) --- Exploració clínica (Diagnòstic) --- Cribratge --- Diagnòstic d'infermeria --- Diagnòstic diferencial --- Diagnòstic dual --- Diagnòstic molecular --- Diagnòstic prenatal --- Diagnòstic quirúrgic --- Diagnòstic per la imatge --- Electrodiagnòstic --- Entrevista clínica --- Examen físic --- Isòtops radioactius en diagnòstic mèdic --- Monitoratge de pacients --- Proves funcionals (Medicina) --- Patologia --- Pronòstic mèdic --- Símptomes --- Genopaties --- Herència patològica --- Malalties congènites --- Malalties genètiques --- Malalties genotípiques --- Trastorns congènits --- Trastorns genètics --- Malalties --- Amiotròfia neural progressiva de Charcot-Marie-Tooth --- Corea de Huntington --- Errors congènits del metabolisme --- Esferocitosi hereditària --- Facomatosis --- Fibrosi quística --- Hemofília --- Malaltia de von Willebrand --- Síndrome d'Aicardi-Goutières --- Síndrome de Noonan --- Genètica mèdica --- Patologia molecular --- Dermatopaties --- Dermatosis --- Càncer de pell --- Ceratosi --- Dermatotoxicologia --- Erisipela --- Fotodermatosis --- Liquen pla --- Lupus eritematós --- Malaltia de Behçet --- Malalties de la pell en els animals --- Malalties de les ungles --- Manifestacions cutànies de les malalties --- Parapsoriasi --- Pecilodèrmia --- Pèmfig --- Psoriasi --- Ronya --- Trastorns de la pigmentació --- Dermatologia --- Urticària --- Facomatosi de Recklinghausen --- Malaltia de Recklinghausen --- Fibromes