Neurofibroma is a benign peripheral nerve sheath tumor comprising variable mixture of Schwann cells, perineurial-like cells, and fibroblasts. Neurofibroma may occur as solitary lesion or as part of a generalised syndrome of neurofibromatosis or very rarely as multiple neurofibromas without any associated syndrome. There are two distinct variants of neurofibromatosis type I and type II. We prese...

To identify cell type(s) that might contribute to nerve sheath tumors (neurofibromas) in patients with neurofibromatosis type 1, we generated cell cultures containing neurons. Schwann cells and fibroblasts from transgenic mouse embryos in which the type 1 neurofibromatosis gene was disrupted by homologous recombination (Brannan et al. (1994) Genes Development, 8,1019-1029). Normal fascicle form...

Neurofibromatosis type 1 is one of the most frequently inherited diseases affecting 1:3500 newborn. The diagnosis of Neurofibromatosis type 1 is not dilemmatic because of typical clinical features. The key feature of Neurofibromatosis type 1, neurofibromas, are complex tumours arising from peripheral nerve sheaths. Neurofibromas may be focal growths or can extend along the length of a nerve, in...

OBJECTIVE To identify the main clinical features associated with mortality in patients with neurofibromatosis 1. DESIGN Cohort study. SETTING Referral center for neurofibromatosis. PATIENTS Three hundred seventy-eight patients with neurofibromatosis 1 who had more than 1 year of follow-up in the center. MAIN OUTCOME MEASURES Mortality. Clinical features, especially dermatological, were ...

Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma. Somatic NF2 mutations have also been reported in a variety of cancers, but interestingly these mutations do not cause the same tumors that are common in here...

Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and developmen...

A 34-year-old woman who presented with hearing loss and tinnitus was found to have reduced vision bilaterally. Computed tomography scan revealed bilateral acoustic neuromas and bilateral optic nerve sheath meningiomas. The presence of bilateral acoustic neuromas fulfils the criteria for the diagnosis of central neurofibromatosis (neurofibromatosis type 2). Although this is the first report of b...

Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with i...

The last decade has seen increasing awareness of the problems encountered in diagnosis and management of the different forms of neurofibromatosis.1 2 Modern techniques of clinical and laboratory investigation have been applied to the disease, culminating in 1987 with the mapping of the genes for type 1 4 and type 25 6 neurofibromatosis to chromosomes 17 and 22 respectively. In the short term th...

OBJECTIVE We report the anesthesia management of a 15 years-old patient with neurofibromatosis type 1, scheduled for resection of a tumor located in the occipitocervical region. In addition, we review the pertaining literature, emphasizing the anesthetic implications of neurofibromatosis manipulation. CASE : A 15-years-old female patient, with Neurofibromatosis type 1 was diagnosed with a large...