Abstract
Neurofibromatosis 1(NF1) is a common autosomal dominant condition that primarily involves the skin and the nervous system.
People with NF1 have an increased risk of developing benign and malignant tumors.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Tilesius von Tilenau WG. Historia pathologica singularis cutis turpitudinis. Jo Godfredi Rheinhardi viri Lannorum. Leipzig, Germany: SL Crusius; 1793.
von Recklinghausen FD. über die multiplen fibrome der haut und ihre beziehung zu den multiplen neuromen. A Hirschwald, Berlin; 1882.
National Institutes of Health Consensus Development Conference Statement. Neurofibromatosis. Arch Neurol Chicago. 1988;45:575-578.
Huson SM, Compston DAS, Clark P, et al. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. 1. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989;26:704-711.
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.
Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. J Neurol. 2001;56:1433-1443.
Viskochil D, Buchberg AN, Xu G, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell. 1990;62:1887-1892.
Wallace MR, Marchuk DA, Anderson LB, et al. Type 1 neurofibromatosis gene: identification of a larger transcript disrupted in three NG1 patients. Science. 1990;249:181-186.
Xu GF, O’Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell. 1990;62:599-608.
Johannessen CM, Reczek EE, James M, et al. The NF1 tumour suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci USA. 2005;102:8573-8578.
Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis: clinical and population study in south east Wales. Brain. 1988;111:55-81.
Brems H, Chmara M, Sahbatou M, et al. Germline loss of function mutations in SPRED1 cause a neurofibromatosis 1 – like phenotype. Nat Genet. 2007;39:1120-1126.
Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44:81-88.
Cambiaghi S, Restano L, Caputo R. Juvenile xanthogranulomas associated with neurofibromatosis 1: 14 patients without evidence of haematologic malignancies. Paediatr Dermatol. 2004;21:97-101.
De Smet L, Sciot R, Legius E. Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1. J Med Genet. 2002;39:e45.
Schindeler A, Little DG. Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1). Bone. 2008;42:616-622.
Ferner RE. The neurofibromatoses. Pract Neurol. 2010;10:82-93.
Crawford AH Jr, Bagamery N. Osseous manifestations of neurofibromatosis in childhood. J Pediatr Orthop. 1986;6:72-88.
Cnossen MH, Moons KG, Garssen MP, et al. Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or =6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children’s Hospital. J Med Genet. 1998;35:624-627.
Tucker T, Schnabel C, Hartmann M, et al. Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet. 2009;46:259-265.
Howlett DC, Farrugia MM, Ferner RE, et al. Multiple lower limb non-ossifying neurofibromas in siblings with neurofibromatosis. Eur J Radiol. 1998;26:280-283.
Casselman ES, Mandell GA. Vertebral scalloping in neurofibromatosis. Radiology. 1979;131:89-94.
Kimura M, Kamata Y, Matsumoto K, et al. Electron microscopical study on the tumour of von Recklinghausen’s neurofibromatosis. Acta Pathol Jpn. 1974;24:79-91.
Lammert M, Mautner VF, Kluwe L. Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients. BMC Cancer. 2005;5:16.
Evans DGR, Huson S, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84:603-618.
MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for Schwannomatosis. Neurology. 2005;64:1838-1845.
Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007;44:481-484.
Leonard JR, Ferner RE, Thomas N, et al. Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. 2007;78:1404-1406.
Mautner VF, Asuagbor FA, Dombi E, et al. Assessment of benign tumour burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008;10:593-598.
Evans DG, Baser ME, McGraughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002;39:311-314.
Ferner RE, Gutmann D. International Consensus Group Statement of the management of malignant peripheral nerve sheath tumours in neurofibromatosis 1. Cancer Res. 2002;62:1573-1577.
Ferner RE, Golding JF, Smith M, et al. [18F] 2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol. 2008;19:390-394.
Ferner RE, Hughes RA, Hall SM, et al. Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet. 2004;41:837-841.
North K, Riccardi V, Samango-Sprouse C, et al. Cognitive function and academic performance in NF1: consensus statement from the NF1 cognitive disorders task force. Neurology. 1997;48:1121-1127.
Costa RM, Silva AJ. Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J Child Neurol. 2002;17:622-626.
Krab LC, de Goede-Bolder A, Aarsen FK, et al. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomised controlled trial. JAMA. 2008;300:287-294.
Créange A, Zeller J, Rostaing-Rigattieri S, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain. 1999;122:473-481.
Gill DS, Hyman SL, Steinberg A, North KN. Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol. 2006;36:1048-1056.
Hyman SL, Gill DS, Shores EA, et al. T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry. 2007;78:1088-1091.
Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007;61:189-198.
Listernick R, Ferner RE, Piersall L, et al. Late-onset optic pathway tumours in children with neurofibromatosis 1. Neurology. 2004;63:194-196.
Sharif S, Ferner R, Birch JM, et al. Second primary tumours in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol. 2006;24:2570-2575.
Packer RJ, Alter J, Allen J, et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg. 1997;86:747-754.
Dasgupta B, Yi Y, Chen DY, et al. Proteomic analysis reveals hyper-activation of the mammalian target of rapacmycin pathway in neurofibromatosis 1-associated human and mouse brain tumours. Cancer Res. 2005;1:2755-2760.
Schonauer C, Tessitore E, Frascadore L, et al. Lumbosacral dural ectasia in type 1 neurofibromatosis. Report of two cases. Neurosurg Sci. 2000;44:165-168.
Vivarelli R, Grosso S, Calabrese F. Epilepsy in neurofibromatosis 1. J Child Neurol. 2003;18:338-342.
Johnson MR, Ferner RE, Bobrow M, et al. Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry. 2000;8:643-646.
Rea D, Brandsema JF, Armstrong D. Cerebral arteriopathy in children with neurofibromatosis type 1. Pediatrics. 2009;124:e476-e483.
Rosser TL, Vezina G, Packer RT. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 2005;64:553-555.
Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: a report of the NF1 Cardiovascular Task Force. Genet Med. 2003;4:105-111.
Lisch K. Ueber beteiligung der augen, insbesondere das vorkommen von irisknotchen bei der neurofibromatose (Recklinghausen). Z Augenheilkunde. 1937;93:137-143.
Srinivasan A, Krishnamurthy G, Fontalvo-Herazo L, et al. Spectrum of renal findings in paediatric fibromuscular dysplasia and neurofibromatosis type 1. Pediatr Radiol. 2010 Oct 16. Epub ahead of print.
Bausch B, Borozdin W, Neumann H, et al. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and phaeochromocytoma. NEJM. 2006;354:2729-2731.
Miettinen M, Fetsch JF, Sobin LH, et al. Gastrointestinal stromal tumours in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol. 2006;30:90-96.
Hough DR, Usar MC, Chan A, et al. Von Recklinghausen’s disease associated with gastrointestinal carcinoid tumours. Cancer. 1983;51:2206-2208.
Verlinsky Y, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online. 2002;4:218-222.
Maertens O, De Schepper S, Vandesompele J, et al. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet. 2007;81:243-251.
Upadhyaya M. Neurofibromatosis type 1: diagnosis and recent advances. Expert Opin Med Diagn. 2010;4:307-322.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer-Verlag London Limited
About this chapter
Cite this chapter
Ferner, R.E. (2011). Neurofibromatosis 1. In: Neurofibromatoses in Clinical Practice. Springer, London. https://doi.org/10.1007/978-0-85729-629-0_1
Download citation
DOI: https://doi.org/10.1007/978-0-85729-629-0_1
Published:
Publisher Name: Springer, London
Print ISBN: 978-0-85729-628-3
Online ISBN: 978-0-85729-629-0
eBook Packages: MedicineMedicine (R0)