Multidisciplinary Approach to Neurofibromatosis Type 1

✍ Scribed by Gianluca Tadini, Eric Legius, Hilde Brems

• Publisher: Springer International Publishing;Springer
• Year: 2020
• Tongue: English
• Leaves: 316
• Edition: 1st ed.
• Category: Library

✦ Synopsis

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 treatment. 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aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment.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.

✦ Table of Contents

Front Matter ....Pages i-xii
Epidemiology of Neurofibromatosis Type 1 (Lidia Pezzani, Donatella Milani)....Pages 1-4
Genetics and Pathway in Neurofibromatosis Type 1 (Ellen Denayer, Eric Legius, Hilde Brems)....Pages 5-14
Molecular Diagnosis for NF1 (Ludwine M. Messiaen)....Pages 15-34
Diagnosis in NF1, Old and New (Gianluca Tadini)....Pages 35-44
Clinical Features of NF1 in the Skin (Michela Brena, Francesca Besagni, Angela Hernandez-Martin, Gianluca Tadini)....Pages 45-69
Ocular Manifestations in Neurofibromatosis Type 1 (Maura Di Nicola, Francesco Viola)....Pages 71-84
Skeletal Manifestations in NF1 (David H. Viskochil, David A. Stevenson)....Pages 85-99
NF1 in Other Organs (Emma Burkitt Wright, Michael Burkitt, Hilde Brems)....Pages 101-115
Genomics of Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1 (Eduard Serra, Bernat Gel, Juana Fernández-Rodríguez, Conxi Lázaro)....Pages 117-147
Mechanotransduction and NF1 Loss—Partner in Crime: New Hints for Neurofibroma Genesis (Federica Chiara)....Pages 149-164
Diagnosis and Management of Benign Nerve Sheath Tumors in NF1: Evolution from Plexiform to Atypical Neurofibroma and Novel Treatment Approaches (Andrea M. Gross, Eva Dombi, Brigitte C. Widemann)....Pages 165-179
Diagnosis and Management of Malignant Tumours in NF1: Evolution from Atypical Neurofibroma to Malignant Peripheral Nerve Sheath Tumour and Treatment Options (Rosalie E. Ferner)....Pages 181-188
Neurological Complications in NF1 (Una-Marie Sheerin, Rosalie E. Ferner)....Pages 189-206
Learning Disabilities and Behaviour in Neurofibromatosis Type 1 Patients (Shruti Garg, Jonathan Green)....Pages 207-218
Mosaic NF1 (Gianluca Tadini, Teresa Schgor, Michela Brena)....Pages 219-231
Legius Syndrome, Other Café-au-lait Diseases and Differential Diagnosis of NF1 (Ellen Denayer, Eric Legius, Hilde Brems)....Pages 233-247
Cancer Risk and Spectrum in Individuals with RASopathies (Mwe Mwe Chao, Martin Zenker, Christian Peter Kratz)....Pages 249-260
Therapeutic Approaches for NF1 (Bruce R. Korf)....Pages 261-272
Medical Follow-Up in Neurofibromatosis Type 1 (Christina Bergqvist, Pierre Wolkenstein)....Pages 273-304
Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1 (Gianluca Tadini, Donatella Milani)....Pages 305-308
Proposal of New Diagnostic Criteria (Gianluca Tadini, Hilde Brems, Eric Legius)....Pages 309-313

✦ Subjects

Medicine & Public Health; Dermatology; Pediatrics; Human Genetics; Neurology; Oncology; General Practice / Family Medicine