Neurofibromatosis : a handbook for patients, families, and health care professionals

Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability. Special features: A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear New treatment options for NF, including pain control C.;Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals; Title Page; Copyright; Dedication; Contents; Preface; 1 Introduction and History; 2 The Many Faces of Neurofibromatosis; 3 The Pathogenesis of Neurofibromatosis 1 and Neurofibromatosis 2; 4 Genetics and Genetic Counseling in Neurofibromatosis 1 and Neurofibromatosis 2; 5 Diagnosis and Overall Management of Neurofibromatosis 1; 6 Neurofibromas and Malignant Peripheral Nerve Sheath Tumors (MPNST) in Neurofibromatosis 1; 7 Other Neural Tumors and Nervous System Abnormalities in Neurofibromatosis 1.

Neurofibromatosis refers to three distinct genetic disorders that share the hallmark manifestation of tumor growth in the tissues that surround nerves. Korf (medical genetics, U. of Alabama-Birmingham) and Rubenstein (neurology, Mount Sinai School of Medicine) summarize what is known about the disorders in language accessible to non- specialists and general readers. Among their topics are pathogenesis, genetic counseling, diagnosis and overall management, neurofibromas and malignant peripheral nerve sheath tumors in neurofibromatosis 1, cognitive function and learning disabilities, management of particular features, psychosocial impacts, and practical and quality-of-life issues. The first edition was published in 1990. Annotation ©2004 Book News, Inc., Portland, OR

Doody Review Services

Reviewer:Kaleb Yohay, MD(Johns Hopkins Hospital)
Description:This book provides an excellent overview of neurofibromatosis 1 and 2 and schwannomatosis. In the 15 years since the first edition was published in 1990 there have been tremendous strides in understanding these disorders. This is the only available book that attempts to make that information accessible to patients and families.
Purpose:Neurofibromatosis is a complex set of disorders with numerous clinical manifestations. This wide phenotypic variability makes understanding these disorders difficult even for healthcare professionals. The goal of the authors is to provide information at level accessible to patients and their families as well as healthcare providers. Generally, the authors have succeeded in this worthy goal, though occasionally the prose lapses into the use of over technical medical jargon.
Audience:Though the stated primary audience for this book is the NF community, there is ample information to make it worthwhile reading for healthcare providers who encounter neurofibromatosis occasionally in their practice.
Features:After a general discussion of neurofibromatosis, its history, pathogenesis, and genetics, the book focuses in more detail on the clinical features and management of NF1 and NF2 individually. In addition there is a very good discussion of schwannomatosis included. Psychosocial and quality of life issues are also addressed in a manner that should be quite useful for patients and families. Throughout the book at the end of each chapter are personal vignettes written by patients, which provide helpful insight into how these diseases affect people at a more personal level.
Assessment:Overall, this book, which tries the difficult balancing acts of providing information useful both for patients and medical professionals and being comprehensive without being overwhelming, does a very good job. There are occasional lapses with overuse of medical terminology that may make some sections difficult for patients to get through on their own. However, this is an essential update for a book that is unique in its focus in providing information for patients with neurofibromatosis.

The current treatment options available for patients with NFHere is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability.Special features: A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear New treatment options for NF, including pain control Coverage of the newly discovered form of NF, schwannomatosis Personal perspectives from NF patients and their families Glossary that defines medical terminologyWith the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference. Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability.Special features:

A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear

New treatment options for NF, including pain control

Coverage of the newly discovered form of NF, schwannomatosis

Personal perspectives from NF patients and their families

Glossary that defines medical terminology

With the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference. Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals Title Page Copyright Dedication Contents Preface 1 Introduction and History 2 The Many Faces of Neurofibromatosis 3 The Pathogenesis of Neurofibromatosis 1 and Neurofibromatosis 2 4 Genetics and Genetic Counseling in Neurofibromatosis 1 and Neurofibromatosis 2 5 Diagnosis and Overall Management of Neurofibromatosis 1 6 Neurofibromas and Malignant Peripheral Nerve Sheath Tumors (MPNST) in Neurofibromatosis 1 7 Other Neural Tumors and Nervous System Abnormalities in Neurofibromatosis 1. 8 Cognitive Function and Learning Disabilities in Neurofibromatosis 19 Other Features of Neurofibromatosis 1 10 Diagnosis and Overall Management of Neurofibromatosis 2 11 Management of Particular Neurofibromatosis 2 Features 12 Schwannomatosis 13 Psychosocial Impact of Neurofibromatosis 14 Practical and Quality-of-Life Issues 15 Research About Neurofibromatosis Appendix Glossary Index. The current treatment options available for patients with NF Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability. Special With the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference. What little is known about the rare genetic disease popularly but wrongly associated with The Elephant Man, is presented in terms that people with no medical training can decipher, and clinicians can relate to their knowledge. Focuses on the care of the patient with any of a wide range of symptoms, while waiting for the molecular geneticists to track down the gene and figure out how it works