LEADER 06591nam 22008415 450 001 9910407734703321 005 20220530111950.0 010 $a3-319-92450-8 024 7 $a10.1007/978-3-319-92450-2 035 $a(CKB)4100000011279308 035 $a(MiAaPQ)EBC6216588 035 $a(DE-He213)978-3-319-92450-2 035 $a(PPN)248597280 035 $a(EXLCZ)994100000011279308 100 $a20200602d2020 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aMultidisciplinary Approach to Neurofibromatosis Type 1 /$fedited by Gianluca Tadini, Eric Legius, Hilde Brems 205 $a1st ed. 2020. 210 1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2020. 215 $a1 online resource (xii, 313 pages) $cillustrations 311 $a3-319-92449-4 327 $a1. Epidemiology of Neurofibromatosis Type 1 -- 2. Genetics and Pathway in Neurofibromatosis Type 1 -- 3. Molecular Diagnosis for NF1 -- 4. Diagnosis in NF1, Old and New -- 5. Clinical Features of NF1 in the Skin -- 6. Ocular Manifestations in Neurofibromatosis Type 1 -- 7. Skeletal Manifestations in NF1 -- 8. NF1 in Other Organs -- 9. Genomics of Peripheral Nerve Sheath Tumors Associated to Neurofibromatosis Type 1 -- 10. Mechanotransduction and Nf1 Loss--Partner in Crime: New Hints for Neurofibroma Genesis -- 11. Diagnosis and Management of Benign Nerve Sheath Tumors in NF1: Evolution from Plexiform to Atypical Neurofibroma and Novel Treatment Approaches -- 12. Diagnosis and Management of Malignant Tumors in NF1: Evolution from Atypical Neurofibromas to Malignant Peripheral Nerve Sheath Tumors and Treatment Options -- 13. Neurological Complications in NF -- 14. Learning Disabilities and Behavior in Neurofibromatosis Type 1 Patients -- 15. Mosaic NF1 -- 16. Legius Syndrome, Other Café -au-lait Diseases and Differential Diagnosis of NF1 -- 17. Cancer Risk and Spectrum in Individuals with RASopathies -- 18. Therapeutical Approaches for NF1 -- 19. Medical Follow up in Neurofibromatosis Type 1 -- 20. Brief Notes on Pregnancy, Prenatal Diagnosis and Preimplantation Procedures in NF1 -- 21. Proposal of New Diagnostic Criteria. 330 $aThis 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. 606 $aDermatology 606 $aPediatrics 606 $aHuman genetics 606 $aNeurology  606 $aOncology   606 $aGeneral practice (Medicine) 606 $aDermatology$3https://scigraph.springernature.com/ontologies/product-market-codes/H1900X 606 $aPediatrics$3https://scigraph.springernature.com/ontologies/product-market-codes/H49006 606 $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008 606 $aNeurology$3https://scigraph.springernature.com/ontologies/product-market-codes/H36001 606 $aOncology$3https://scigraph.springernature.com/ontologies/product-market-codes/H33160 606 $aGeneral Practice / Family Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/H24003 606 $aNeurofibromatosi$2thub 606 $aMalalties de la pell$2thub 606 $aMalalties hereditàries$2thub 606 $aDiagnòstic$2thub 606 $aTerapèutica$2thub 608 $aLlibres electrònics$2thub 615 0$aDermatology. 615 0$aPediatrics. 615 0$aHuman genetics. 615 0$aNeurology . 615 0$aOncology  . 615 0$aGeneral practice (Medicine). 615 14$aDermatology. 615 24$aPediatrics. 615 24$aHuman Genetics. 615 24$aNeurology. 615 24$aOncology. 615 24$aGeneral Practice / Family Medicine. 615 7$aNeurofibromatosi 615 7$aMalalties de la pell 615 7$aMalalties hereditàries 615 7$aDiagnòstic 615 7$aTerapèutica 676 $a616.99383 702 $aTadini$b Gianluca$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aLegius$b Eric$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aBrems$b Hilde$4edt$4http://id.loc.gov/vocabulary/relators/edt 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910407734703321 996 $aMultidisciplinary Approach to Neurofibromatosis Type 1$92266524 997 $aUNINA