The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
1,258
Citation
65
Reference
10
Related Paper
Citation Trend
Abstract:
Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2. Our objective was to determine the diagnostic criteria for neurofibromatosis 1 and neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders.Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings.All studies were reviewed and analyzed by consensus from multiple authors.Peer-reviewed published data were critically evaluated by independent extraction by multiple authors.The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site.On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.Keywords:
Neurofibromatoses
Neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis are a set of dominantly transmitted disorders that have in common the tendency towards formation of tumors of the nervous system and other tissues. The genes for neurofibromatosis 1, neurofibromatosis 2, and one of two forms of tuberous sclerosis have been identified and appear to act as tumor suppressor genes. Information is accumulating about pathogenesis that may eventually improve our ability to diagnose and treat these disorders.
Neurofibromatoses
Pathogenesis
TSC1
Cite
Citations (16)
The second edition of this book attempts to update our understanding of neurofibromatosis. This book represents the perspective and study of Dr Riccardi, who has extensively observed patients with neurofibromatosis. Dr Riccardi organizes his discussion of the manifestations of neurofibromatosis by organ systems. He begins with an extensive and thorough discussion of the skin changes of patients with neurofibromatosis, a chapter that provides a comprehensive review for the dermatologist. The ensuing chapters review other affected organs, eg, nervous system, eye, skeletal system, and psychiatric and emotional disturbances. The chapter about forms of neurofibromatosis that Dr Riccardi classifies as "non—von Recklinghausen [neurofibromatosis]" provides the reader with tremendous insight about neurofibromatosis 2 and rare variants that have received little attention in the literature. The chapters are peppered with anecdotal cases, each with a teaching point. This case-oriented approach to education about neurofibromatosis is much more effective than merely enumerating facts and highlights
Neurofibromatoses
Cite
Citations (95)
Neurofibromatosis 1 is a progressive multisystem disorder. The hallmark feature is the occurrence of nerve sheath tumors, neurofibromas. Other features include tumors such as optic gliomas and malignant peripheral nerve sheath tumors. There are also nontumor manifestations, such as skeletal dysplasia and learning disabilities. Since the NF1 gene was identified, much has been learned about the molecular genetics of the disorder; recently, this has led to insights about pathogenesis. Ultimately, it is hoped that this will be translated into specific means of treatment. This review describes the various clinical features of neurofibromatosis 1 and considers them in the context of the pathophysiology of the disorder. (J Child Neurol 2002; 17:573-577).
Neurofibromatoses
Pathophysiology
Genetic disorder
Cite
Citations (59)
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed.
Neurofibromatoses
Presentation (obstetrics)
Cite
Citations (65)
Neurofibromatosis also as Von Recklinghausen was able an association between the cutaneous and tumor lesions. This disorder is divided into neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis. Neurofibromatosis type I, in which the nerve tissue grows tumors that may be benign and may cause serious damage by compressing nerves and other tissues. More than half of the people affected by neurofibromatosis have a family history of it with some type of genetic mutation. This paper presents a case of Von Recklinghausen with clinical signs especially in eye. Some treatments for the patient's quality of life are discussed.
Neurofibromatoses
Neurofibromatosis type 2
Neurofibromin 1
Cite
Citations (0)
Segmental neurofibromatosis (NF-5) is an extremely rare variant of neurofibromatosis involving a single extremity without pathologic features beyond the midline. A case of segmental neurofibromatosis involving the sciatic nerve and its branches is presented with a detailed description of the patient's preoperative findings plus postoperative course through 1-year follow-up. Clinical, histologic, and genetic findings are given along with a brief review of the literature on segmental neurofibromatosis. Last, treatment options and postoperative care recommendations are provided.
Neurofibromatoses
Neurofibromatosis type I
Cite
Citations (4)
THE neurofibromatoses consist of two distinct disorders,1 , 2 the genes for which have recently been located on separate chromosomes.3 4 5 6 Neurofibromatosis 1, also called von Recklinghausen's neurofibromatosis, affects approximately 100,000 people in the United States. It is a common and potentially serious inherited disorder of the human nervous system.1 Neurofibromatosis 2, also known as bilateral acoustic neurofibromatosis, affects several thousand Americans and has a molecular origin similar to that of some of the common sporadically occurring tumors of the nervous system — meningiomas, schwannomas, neurofibromas, and possibly gliomas.3 This review discusses the clinical features, diagnostic advances, treatment dilemmas, and basic research findings . . .
Neurofibromatoses
Neurofibromatosis type 2
Cite
Citations (444)
The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. NF2 and schwannomatosis are rare diseases that are typified by multiple schwannomas that are particularly painful in people with schwannomatosis. Since 1985, the Children's Tumor Foundation (formerly the National Neurofibromatosis Foundation) has hosted an international Neurofibromatosis Conference, bringing together international participants who are focused on NF research and clinical care. The 2017 Conference, held in Washington, DC, was among the largest gatherings of NF researchers to date and included presentations from clinicians and basic scientists, highlighting new data regarding the molecular and cellular mechanisms underlying each of these diseases as well as results from clinical studies and clinical trials. This article summarizes the findings presented at the meeting and represents the current state‐of‐the art for NF research.
Neurofibromatoses
Neurofibromatosis type 2
Neurofibromin 1
Cite
Citations (12)
Descriptions of individuals supposed to have neurofibromatosis have been discovered in manuscripts dating from 1000 AD (Zanca, 1980).However, it was not until 1881 that Von Recklinghausen coined the term ''neurofibroma'' when he observed that this benign tumour arose from the peripheral nerve sheath.His colleagues honored his contribution by naming the condition Von Recklinghausen's disease.However, the different forms of neurofibromatosis were not separated and delineated until the latter part of the twentieth century (Ferner et al., 2007a).Neurofibromatosis is one of the called "neurocutaneous disorders" or "phakomatoses", genetic diseases that involve both skin and the nervous system.They share some features: hereditary transmission, involvement of organs of ectodermal origin and a tendency to develop certain types of central and peripheral nervous system tumours.Advances in clinical genetics allowed to separate neurofibromatosis in two diseases, each caused by a different gene, although recognition still requires an appreciation of the cutaneous and systemic symptoms.(Ferner 2007a(Ferner , 2010) ) Clinical manifestations and diagnostic criteria 2.1 Neurofibromatosis 1Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with an incidence of 1 in 3,500 live births.Half of all cases are spontaneous mutations.The gene was cloned on chromossome 17q11.2 in 1990.Neurofibrin, the protein product, is widely expressed with high levels in the nervous system.It acts as a tumour suppressor which explains why NF1 patients are prone to developing benign and malignant tumours (Ferner, 2010).Although recent advances in genetic testing may permit the laboratory diagnosis in as many as 95%, for the majority of patients the diagnosis is made on the basis of clinical manifestations.Diagnosis requires the presence of 2 or more major criteria: 6 or more café au lait spots, axillary or inguinal freckling, 2 or more cutaneous neurofibromas, 1 plexiform neurofibroma, characteristic bony lesions (pseudarthrosis, sphenoid wing hypoplasia), an optic glioma, 2 or more iris Lisch nodules, or a first-degree relative with NF1 (Table 1).Diagnosis can be made at birth in some cases, whereas others must be monitored for a few years for the presence of additional criteria (Ferner et al., 2007a(Ferner et al., , b, 2010;;Tonsgard, 2006). www.intechopen.comNeurodegeneration 258 6 or more café au lait spots (>0,5 cm in prepubertal children, >1,5 cm in postpubertal individuals) Axillary or inguinal freckling 2 or more cutaneous neurofibromas 1 plexiform neurofibroma 2 or more iris Lisch nodules An optic glioma Characteristic bony lesions (pseudarthrosis, sphenoid wing hypoplasia) A first-degree relative with NF1 How to referenceIn order to correctly reference this scholarly work, feel free to copy and paste the following:
Cite
Citations (0)
Neurofibromatoses
Neuroradiology
Neurofibromin 1
Neurofibromatosis type I
Peripheral Nervous System
Cite
Citations (15)