Multidisciplinary Approach to Neurofibromatosis Type 1

Multidisciplinary Approach to Neurofibromatosis Type 1
Author :
Publisher : Springer Nature
Total Pages : 316
Release :
ISBN-10 : 9783319924502
ISBN-13 : 3319924508
Rating : 4/5 (508 Downloads)

Book Synopsis Multidisciplinary Approach to Neurofibromatosis Type 1 by : Gianluca Tadini

Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment.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.

Multidisciplinary Approach to Neurofibromatosis Type 1 Related Books

Multidisciplinary Approach to Neurofibromatosis Type 1
Language: en
Pages: 316
Authors: Gianluca Tadini
Categories: Medical
Type: BOOK - Published: 2020-06-02 - Publisher: Springer Nature

GET EBOOK

This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genoderm
Neurocutaneous Syndromes in Children
Language: en
Pages: 247
Authors: Paolo Curatolo
Categories: Medical
Type: BOOK - Published: 2006 - Publisher: John Libbey Eurotext

GET EBOOK

Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a lar
Neurofibromatosis Type 1
Language: en
Pages: 711
Authors: Meena Upadhyaya
Categories: Medical
Type: BOOK - Published: 2013-01-29 - Publisher: Springer Science & Business Media

GET EBOOK

Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disord
Oxford Textbook of Neurological Surgery
Language: en
Pages: 1177
Authors: Ramez Kirollos
Categories: Medical
Type: BOOK - Published: 2019-09-05 - Publisher: Oxford University Press, USA

GET EBOOK

Neurosurgery is a rapidly developing and technically demanding branch of surgery that requires a detailed knowledge of the basic neuro-sciences and a thorough c
Textbook of Pediatric Neurosurgery
Language: en
Pages: 0
Authors: Concezio Di Rocco
Categories: Medical
Type: BOOK - Published: 2020-07-14 - Publisher: Springer

GET EBOOK

This book documents the state of the art in pediatric neurosurgery with the intention of providing a comprehensive guide to the management of the full range of