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Neurofibromatosis: Diagnosis, Management and Health Impact UK Edition 2017

Neurofibromatosis: Diagnosis, Management and Health Impact UK Edition 2017

Description

Description

Neurofibromatosis 1 (NF1) is a neurocutaneous disorder with a heterogenous presentation affecting 1 in 2500 to 1 in 3000 births. Our understanding of the pathogenesis of NF1 has increased dramatically since the discovery of the NF1 gene in 1990 and the role its product, neurofibromin, plays in tumor suppression. This book provides new research on the diagnosis, management and health impacts of NF. Chapter 1 – Neurofibromatosis 1 (NF1) is one of the most common human genetic disorders. It may affect almost all organic systems and has significant variable expressivity. Oral manifestations occur in around 70% of the NF1 patients and include soft and hard tissues alterations. Therefore, dentists and physicians should be aware of the oral manifestations of patients with NF1 and perform a careful examination to investigate these alterations, which should include physical examination, routine radiographies and sialometry, as well as other diagnostic tests depending on the specific alterations that the patient present. The aim of this chapter is to review the literature about oral manifestations in NF1, including their management. Chapter 2 – Neurofibromatosis type 1 (NF-1) is classically characterized by its neurocutaneous manifestations such as café-au-lait macules and neurofibromas. However, NF-1 affects multiple organ systems; in particular, the orthopaedic manifestations of NF-1 pose a challenge in management. One of the most complex NF-1 associated orthopaedic disorders is congenital pseudarthrosis of the tibia (CPT). Congenital pseudarthrosis of the tibia is a long-bone dysplasia that may range in clinical presentation from simple anterolateral tibial angulation to complete non-union with extensive bone defects. The pathogenesis and management are multifaceted. Treatment is of various successes and is challenged by persistent failure to achieve union and refractures. The focus of this chapter is to examine CPT manifestations, pathology, and management. Among the concepts to be discussed are pathologic mechanisms of CPT in NF-1, approaches to management, and challenges of CPT management. Chapter 3 – Since the discovery of the NF1 gene, a wealth of basic and clinical research has vastly improved our understanding and treatment of the physical manifestations of neurofibromatosis 1. In contrast, the psychosocial effects of NF1 and their proper management have only recently begun to be elucidated. Although the body of literature is still small, the evidence for significant impairments in emotional function and quality of life in NF1 patients is striking. Importantly, research has shown that a patient’s psychosocial well-being is not purely a function of the physical severity of his or her disease, a finding that has implications directly applicable to clinical practice. In this chapter, a review of the present state of the literature regarding psychosocial function in NF1 patients is presented. Studies from both the pediatric and adult populations are included. Evidence for the roles that both physical manifestations (e.g., dermatological manifestations, tumor burden, and pain) and emotional disturbances (e.g., concern for transmission to children, depression, and anxiety) play in determining the quality of life in NF1 patients will be examined. Chapter 4 – Neurofibromatosis type 1 (NF1) causes many variable and widespread complications that negatively affect a patient’s health and quality of life. These include physical manifestations as well as neurological impairment in social, motor, and cognitive functioning. Cognitive impairments are the most frequent complication of NF1 in children. They are also the strongest predictors of prognosis and future quality of life as an adult. Attention and visual-spatial perception deficits are among the most consistently reported deficits. However, a wide range of other cognitive domains may be affected as well, including general intellectual function, academic achievement, learning disabilities, executive function, and language. As such, an increasing number of studies are investigating treatments targeted at reducing the impact of cognitive impairment. In this chapter, we will review the current understanding of the cognitive profile in children affected by NF1 and also highlight advances in research toward potential therapies and interventions. Chapter 5 – In our search for applicable agents and modalities for practical clinical therapy of skin lesions for neurofibromatosis type 1 (NF1) patients, we found vitamin D3, rapamycin, lovastatin and interferon � (or its gene transfection) efficiently suppressed in vitro growth of various primary cells isolated from neurofibromas (NFs) of NF1 patients. Topical application of a vitamin D3 (VD3) analog suppressed growth of cells on the basal layer of café–au–lait macules xenografted onto nude mouse skin. Furthermore, local injection of this VD3 analog into subcutaneously transplanted NF tissue samples remarkably inhibited the growth of proliferating NF cells that had previously been stimulated with injection of basic fibroblast and nerve growth factors. Irradiation with 308–nm excimer light inhibited in vitro growth of various cells isolated from NFs in a dose–dependent manner. Whole–body irradiation with 312–nm narrow–band ultraviolet B (NB–UVB) once weekly or biweekly was found to significantly increase serum VD3 levels of NF1 patients. In addition, long–term (more than 1 year) NB–UVB irradiation was accompanied by a brightening of generalized skin hyperpigmentation. Local absolute ethanol injections administered under general anesthesia to numerous small NFs on the entire body induced rapid necrosis of lesions. Irradiation with intense pulsed light–radio frequency, Q–switched Ruby or Nd:YAG laser in combination with topical application of VD3 analogs provided additional improvement of pigmented skin lesions. In this chapter, our investigative basic and clinical data for these treatments will be presented.

Editorial Reviews

Editorial Reviews

The Publisher has taken reasonable care in the preparation of this book, but makes no expressed or implied warranty of any kind and assumes no responsibility for any errors or omissions. No liability is assumed for incidental or consequential damages in connection with or arising out of information contained in this book. The Publisher shall not be liable for any special, consequential, or exemplary damages resulting, in whole or in part, from the readers’ use of, or reliance upon, this material. Any parts of this book based on government reports are so indicated and copyright is claimed for those parts to the extent applicable to compilations of such works. Independent verification should be sought for any data, advice or recommendations contained in this book. In addition, no responsibility is assumed by the publisher for any injury and/or damage to persons or property arising from any methods, products, instructions, ideas or otherwise contained in this publication. This publication is designed to provide accurate and authoritative information with regard to the subject matter covered herein. It is sold with the clear understanding that the Publisher is not engaged in rendering legal or any other professional services. If legal or any other expert assistance is required, the services of a competent person should be sought. FROM A DECLARATION OF PARTICIPANTS JOINTLY ADOPTED BY A COMMITTEE OF THE AMERICAN BAR ASSOCIATION AND A COMMITTEE OF PUBLISHERS.

Product details

Product details

  • Paperback
  • Publisher: Nova Science Pub Inc; UK ed. edition (January 4, 2017)
  • Language: English
  • ISBN-10: 1536107050
  • ISBN-13: 978-1536107050

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