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Title Multidisciplinary approach to neurofibromatosis type 1 / Gianluca Tadini, Eric Legius, Hilde Brems, editors
Published Cham : Springer, 2020


Description 1 online resource (316 pages)
Contents 1. Epidemiology of Neurofibromatosis Type 1 Lidia Pezzani, Donatella Milani 2. Genetics and Pathway in Neurofibromatosis Type 1Ellen Denayer, Eric Legius, Hilde Brems 3. Molecular Diagnosis for NF1Ludwine M. Messiaen 4. Diagnosis in NF1, Old and NewGianluca Tadini 5. Clinical Features of NF1 in the SkinMichela Brena, Francesca Besagni, Angela Hernandez-Martin, Gianluca Tadini 6. Ocular Manifestations in Neurofibromatosis Type 1Maura Di Nicola, Francesco Viola7. Skeletal Manifestations in NF1David H. Viskochil, David A. Stevenson8. NF1 in Other OrgansEmma Burkitt Wright, Michael Burkitt and Hilde Brems 9. Genomics of Peripheral Nerve Sheath Tumors Associated to Neurofibromatosis Type 1Eduard Serra, Bernat Gel, Juana Fernández-Rodríguez, Conxi Lázaro 10. Mechanotransduction and Nf1 Loss -- Partner in Crime: New Hints for Neurofibroma GenesisFederica Chiara 11
Summary 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aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment.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
Notes Print version record
Subject Neurofibromatosis.
Neurofibromatosis -- Diagnosis
Neurofibromatosis -- Treatment
Neurofibromatoses -- diagnosis
Neurofibromatoses -- therapy
Paediatric medicine.
Medical genetics.
Neurology & clinical neurophysiology.
General practice.
Medical -- Pediatrics.
Medical -- Genetics.
Medical -- Neurology.
Medical -- Oncology.
Medical -- Family & General Practice.
Medical -- Dermatology.
Malalties de la pell.
Malalties hereditàries.
Genre/Form Llibres electrònics.
Form Electronic book
Author Tadini, Gianluca.
Legius, Eric
Brems, Hilde
ISBN 9783319924502