plexiform neurofibroma

Summary

Summary: A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)

Top Publications

  1. ncbi Recent advances in neurofibromatosis type 1
    Deepa Arun
    Department of Neurology, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, USA
    Curr Opin Neurol 17:101-5. 2004
  2. ncbi Plexiform neurofibroma of the submandibular salivary gland in a child
    J M Bourgeois
    McMaster University, Hamilton, Canada
    Can J Gastroenterol 15:835-7. 2001
  3. ncbi A case of isolated giant plexiform neurofibroma involving all branches of the common peroneal nerve
    Oguz Cebesoy
    Orthopedic and Traumatology Department, Gaziantep University Faculty of Medicine, 27060 Gaziantep, Turkey
    Arch Orthop Trauma Surg 127:709-12. 2007
  4. ncbi Plexiform neurofibromas
    B R Korf
    Division of Genetics, Department of Neurology, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Am J Med Genet 89:31-7. 1999
  5. doi Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up study
    Laurent Lantieri
    Universite Paris 12, Faculte de Medecine, IFR10, Creteil, France
    Lancet 372:639-45. 2008
  6. pmc Plexiform neurofibroma genesis: questions of Nf1 gene dose and hyperactive mast cells
    Karl Staser
    Department of Biochemistry, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Curr Opin Hematol 17:287-93. 2010
  7. ncbi Oral plexiform neurofibroma not associated with neurofibromatosis type I: case report
    Luciana S Marocchio
    Department of Stomatology, Area of Pathology, Bauru School of Dentistry, University of Sao Paulo, Brazil
    J Oral Sci 48:157-60. 2006
  8. doi Management of advanced laryngeal and hypopharyngeal plexiform neurofibroma in adults
    Sandeep P Dave
    Department of Otolaryngology Head and Neck Surgery, Jackson Memorial Medical Center and Sylvester Comprehensive Cancer Center, Miami, FL 33136, USA
    Am J Otolaryngol 29:279-83. 2008
  9. doi Evaluation of plexiform neurofibroma in neurofibromatosis type 1 in 18 family members of 3 generations: ultrasonography and magnetic resonance imaging a diagnostic supplement
    Virendra N Sehgal
    Dermato Venereology Skin VD Centre, Sehgal Nursing Home, Panchwati, Delhi, India
    Int J Dermatol 48:275-9. 2009
  10. ncbi Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with pain
    Thomas Kretschmer
    Neurochirurgische Klinik, Universitat Ulm, Gunzburg, Germany
    J Clin Neurosci 11:886-9. 2004

Research Grants

Detail Information

Publications185 found, 100 shown here

  1. ncbi Recent advances in neurofibromatosis type 1
    Deepa Arun
    Department of Neurology, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, USA
    Curr Opin Neurol 17:101-5. 2004
    ..The purpose of this review is to highlight recent advances in defining the molecular etiology of nervous system tumors and learning disabilities...
  2. ncbi Plexiform neurofibroma of the submandibular salivary gland in a child
    J M Bourgeois
    McMaster University, Hamilton, Canada
    Can J Gastroenterol 15:835-7. 2001
    ..Resection of the lesion revealed a plexiform neurofibroma involving the submandibular gland...
  3. ncbi A case of isolated giant plexiform neurofibroma involving all branches of the common peroneal nerve
    Oguz Cebesoy
    Orthopedic and Traumatology Department, Gaziantep University Faculty of Medicine, 27060 Gaziantep, Turkey
    Arch Orthop Trauma Surg 127:709-12. 2007
    b>Plexiform neurofibroma is generally considered as a component of neurofibromatosis 1, and a great majority of the cases with plexiform neurofibroma display other symptoms related to neurofibromatosis...
  4. ncbi Plexiform neurofibromas
    B R Korf
    Division of Genetics, Department of Neurology, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Am J Med Genet 89:31-7. 1999
    ..but research into the molecular pathogenesis of NF1, as well as advances in tumor therapy in general, are opening the way towards clinical trials for plexiform neurofibroma. Am. J. Med. Genet. (Semin. Med. Genet.) 89:31-37, 1999.
  5. doi Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up study
    Laurent Lantieri
    Universite Paris 12, Faculte de Medecine, IFR10, Creteil, France
    Lancet 372:639-45. 2008
    ..We report here a 1-year follow-up of a patient who underwent face transplantation with a composite tissue allograft...
  6. pmc Plexiform neurofibroma genesis: questions of Nf1 gene dose and hyperactive mast cells
    Karl Staser
    Department of Biochemistry, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Curr Opin Hematol 17:287-93. 2010
    ..Recent mouse and human studies indicate that mast cells underpin inflammation in the plexiform neurofibroma microenvironment of neurofibromatosis type 1...
  7. ncbi Oral plexiform neurofibroma not associated with neurofibromatosis type I: case report
    Luciana S Marocchio
    Department of Stomatology, Area of Pathology, Bauru School of Dentistry, University of Sao Paulo, Brazil
    J Oral Sci 48:157-60. 2006
    An unusual case of isolated plexiform neurofibroma arising in the oral cavity without other clinical manifestations or family history of neuro-fibromatosis-1 (NF-1) is described...
  8. doi Management of advanced laryngeal and hypopharyngeal plexiform neurofibroma in adults
    Sandeep P Dave
    Department of Otolaryngology Head and Neck Surgery, Jackson Memorial Medical Center and Sylvester Comprehensive Cancer Center, Miami, FL 33136, USA
    Am J Otolaryngol 29:279-83. 2008
    ..Because it is unencapsulated and more aggressive, plexiform neurofibroma presents a management dilemma...
  9. doi Evaluation of plexiform neurofibroma in neurofibromatosis type 1 in 18 family members of 3 generations: ultrasonography and magnetic resonance imaging a diagnostic supplement
    Virendra N Sehgal
    Dermato Venereology Skin VD Centre, Sehgal Nursing Home, Panchwati, Delhi, India
    Int J Dermatol 48:275-9. 2009
    Abstract Plexiform neurofibroma in neurofibromatosis type 1, an autosomal-dominant genetic disorder, is characterized by a combination of interlacing components or a network...
  10. ncbi Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with pain
    Thomas Kretschmer
    Neurochirurgische Klinik, Universitat Ulm, Gunzburg, Germany
    J Clin Neurosci 11:886-9. 2004
    ..Ankyrin G, a transmembrane, structural protein of the axon, was examined in four conditions: (a) painful plexiform neurofibroma; (b) painful neuroma; (c) non-painful neuromas; (d) normal nerve...
  11. ncbi Mesenteric plexiform neurofibroma in an 11-year-old boy with von Recklinghausen disease
    JinYoung Park
    Department of Pediatric Surgery, School of Medicine, Kyungpook National University, Taegu 700 721, Korea
    J Pediatr Surg 42:E15-8. 2007
    ..Histopathologic study revealed a plexiform neurofibroma involving the mesentery and intestine without evidence of malignant transformation...
  12. ncbi NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight
    E Dombi
    Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA
    Neurology 68:643-7. 2007
    To longitudinally analyze changes in plexiform neurofibroma (PN) volume in relation to age and body growth in children and young adults with neurofibromatosis type 1 and inoperable, symptomatic, or progressive PNs, using a sensitive, ..
  13. ncbi Best cases from the AFIP: plexiform neurofibroma of the bladder
    Lana M Wilkinson
    Department of Medical Imaging, Hospital for Sick Children, Toronto, Ontario, Canada
    Radiographics 24:S237-42. 2004
  14. ncbi Plexiform neurofibroma of the tongue: a case report of a child
    Enis Alpin Guneri
    Department of Oto Rhino Laryngology, Head and Neck Surgery, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 48:155-8. 2006
    A three-year-old girl with a lingual plexiform neurofibroma treated by total excision is presented. Despite their occurrence in the head and neck region, neural sheath tumors are rarely encountered in the oral cavity...
  15. ncbi Massive plexiform neurofibroma with associated meningo-encephalocoele and occipital bone defect presenting as a cervical mass
    A Renshaw
    Department of Plastic and Reconstructive Surgery, Frenchay Hospital, Frenchay, Bristol BS16 1LE, UK
    Br J Plast Surg 56:514-7. 2003
    ..We report a rare case of a 54-year-old lady with a massive plexiform neurofibroma extending from the auricular region down her left neck and into her shoulder, with an associated large ..
  16. ncbi Is a plexiform neurofibroma pathognomonic of neurofibromatosis type I?
    Vincent Lin
    Department of Otolaryngology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Laryngoscope 114:1410-4. 2004
    Several prominent textbooks have claimed that a plexiform neurofibroma is pathognomonic for neurofibromatosis type I...
  17. ncbi Plexiform neurofibroma of the uterine cervix: a case report and review of the literature
    Eric X Wei
    Department of Pathology, Louisiana State University Health Sciences Center, Shreveport 71130, USA
    Arch Pathol Lab Med 129:783-6. 2005
    ..We describe a case of plexiform neurofibroma affecting the uterine cervix in a patient with chronic pelvic pain and menorrhagia who had multiple ..
  18. ncbi CT features of plexiform neurofibroma of the submandibular gland
    M Aribandi
    Department of Radiology, Geisinger Medical Center, Danville, PA 17822, USA
    AJNR Am J Neuroradiol 27:126-8. 2006
    b>Plexiform neurofibroma of the submandibular gland is an extremely rare tumor. We report the CT findings in a 6-year-old girl with type 1 neurofibromatosis who had a histopathologically proven submandibular gland plexiform neurofibroma...
  19. ncbi Prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis
    Luiz G Darrigo Jr
    Universidade de Sao Paulo USP, Sao Paulo, SP, Brazil
    J Pediatr (Rio J) 83:571-3. 2007
    To assess prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis and its malignant potential.
  20. ncbi CO2-laser in the removal of a plexiform neurofibroma from the eyelid
    R Lapid-Gortzak
    Department of Ophthalmology, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel
    Ophthalmic Surg Lasers 31:432-4. 2000
    ..Using the CO2-laser achieves better cosmesis, while reducing operation time and limiting complications...
  21. ncbi Plexiform neurofibroma of the cheek mucosa. A case report
    Guillermo Gómez-Oliveira
    Servicio de Cirugía Macilofacial, CHU Juan Canalejo, La Coruna, Spain
    Med Oral 9:263-7. 2004
    The case reported deals with a solitary plexiform neurofibroma affecting the cheek submucosa. Neurofibroma is an uncommon tumor which rarely appears in oral cavity but it represents the most common neurogenic tumor...
  22. ncbi Diffuse, retroperitoneal mesenteric and intrahepatic periportal plexiform neurofibroma in a 5-year-old boy
    L Z Fenton
    Department of Radiology, The Children s Hospital, 1056 East 19th Avenue, B125, Denver, CO 80128, USA
    Pediatr Radiol 31:637-9. 2001
    We present a case of plexiform neurofibroma involving the retroperitoneum, mesentery, and liver in a 5-year-old boy who underwent evaluation for extent of a palpable left neck mass...
  23. ncbi Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type 1
    Jeffrey B Wise
    Department of Otorhinolaryngology Head and Neck Surgery, University of Pennsylvania Health System, Philadelphia, PA, USA
    Head Neck 24:207-11. 2002
    b>Plexiform neurofibroma is a relatively common but potentially devastating manifestation of neurofibromatosis type 1 (NF1)...
  24. ncbi The role of [18F]-fluorodeoxyglucose positron emission tomography in predicting plexiform neurofibroma progression
    Michael J Fisher
    Division of Oncology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    J Neurooncol 87:165-71. 2008
    ..We hypothesized that PN tumors with high metabolic activity as demonstrated by FDG-PET are more likely to progress in the following year...
  25. ncbi Clinical relevance of positron emission tomography and magnetic resonance imaging in the progression of internal plexiform neurofibroma in NF1
    V F Mautner
    Section of Phacomatoses, Maxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Germany
    Anticancer Res 27:1819-22. 2007
    ..MPNST frequently arise from a previously undetected plexiform neurofibroma (PNF)...
  26. ncbi Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: identification of a gene expression signature of poor prognosis
    Pascale Lévy
    Laboratoire de Génétique Moléculaire UPRES EA 3618, Faculte des Sciences Pharmaceutiques et Biologiques, Universite Paris V, Paris
    Clin Cancer Res 10:3763-71. 2004
    ..NF1 patients with plexiform neurofibromas are at risk of developing malignant peripheral nerve sheath tumors...
  27. ncbi Management of head and neck plexiform neurofibromas in pediatric patients with neurofibromatosis type 1
    Jeffrey B Wise
    Department of Surgery, Division of Otolaryngology Head and Neck Surgery, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, 19104, USA
    Arch Otolaryngol Head Neck Surg 131:712-8. 2005
    ....
  28. ncbi Association between benign and malignant peripheral nerve sheath tumors in NF1
    T Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Neurology 65:205-11. 2005
    ..The authors conducted a study to determine whether people with NF1 who have benign neurofibromas of various kinds are at greater risk of developing MPNSTs than patients with NF1 who lack these benign tumors...
  29. ncbi Superficial neurofibroma: a lesion with unique MRI characteristics in patients with neurofibromatosis type 1
    Ruth Lim
    Department of Radiology, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02150, USA
    AJR Am J Roentgenol 184:962-8. 2005
    ..Our aim was to test the hypothesis that in neurofibromatosis type 1 (NF1), superficial plexiform neurofibromas have different MRI characteristics than deep plexiform neurofibromas...
  30. ncbi A 13-year-old girl with neurofibromatosis-1, scoliosis
    Robert Listernick
    Feinberg School of Medicine, Northwestern University, IL, USA
    Pediatr Ann 33:736-9. 2004
  31. ncbi Plexiform neurofibroma of the neck
    O Kilickesmez
    Department of Radiology, Istanbul Social Security Hospital, Istanbul, Turkey
    JBR-BTR 87:142-3. 2004
  32. pmc Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR
    Pascale Lévy
    Laboratoire de Génétique Moléculaire UPRES EA 3618, Faculte des Sciences Pharmaceutiques et Biologiques, Universite Paris V, Paris, France
    Mol Cancer 3:20. 2004
    ..Plexiform neurofibromas can give rise to malignant peripheral nerve sheath tumors (MPNSTs), and the underlying molecular mechanisms are largely unknown...
  33. ncbi Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imaging
    Jeffrey Solomon
    Sensor Systems, Inc, 103A Carpenter Drive, Sterling, Virginia 20864, USA
    Comput Med Imaging Graph 28:257-65. 2004
    ..This automated method was reproducible (coefficient of variation 0.6-5.6%), yielded similar results to manual tumor tracings (R = 0.999) and will likely improve the ability to measure PNs in ongoing clinical trials...
  34. ncbi Plexiform neurofibromatosis
    Vijay Gandhi
    Department of Dermatology and STD, UCMS and GTB Hospital, Delhi, India
    Indian Pediatr 41:624. 2004
  35. ncbi Plexiform neurofibroma of the oesophagus: a mimicker of malignancy
    A Ganeshan
    John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, UK
    Br J Radiol 78:1095-7. 2005
    We report the first case of a plexiform neurofibroma of the oesophagus, presenting with dysphagia in a 67-year-old man known to suffer from von Recklinghausen's neurofibromatosis...
  36. ncbi Single stage near total resection of massive pediatric head and neck plexiform neurofibromas
    Evan R Ransom
    Department of Otolaryngology, Head and Neck Surgery, Columbia University, 180 Fort Washington, HP813, New York, NY 10032, USA
    Int J Pediatr Otorhinolaryngol 70:1055-61. 2006
    ..We describe our experience with early aggressive surgical intervention in such patients in order to avert these problems...
  37. ncbi Anti-vimentin antibodies and neuron-specific enolase in children with neurofibromatosis type-1
    Karel Kotaska
    Department of Clinical Biochemistry and Pathobiochemistry, University Hospital Motol, 2nd Medical Faculty, Charles University, Prague, Czech Republic
    Neuro Endocrinol Lett 28:761-4. 2007
    ..to investigate the relationship of serum levels of neuron-specific enolase, anti-vimentin IgG, and anti-vimentin IgM antibodies in patients with neurofibromatosis type 1 and associated tumors (optic glioma, and plexiform neurofibroma).
  38. ncbi [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
    R E Ferner
    Department of Neurology, Guy s and St Thomas NHS Foundation Trust, Kings College London, London, UK
    Ann Oncol 19:390-4. 2008
    ....
  39. pmc Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1
    J R Leonard
    Department of Neurosurgery, St Louis Children s Hospital and Washington University School of Medicine, St Louis, Missouri, USA
    J Neurol Neurosurg Psychiatry 78:1404-6. 2007
    ..The majority of patients had recovery of neurological function and no further clinical progression. Progressive neurological deficit (typically quadriparesis), rather than neuroimaging appearances, should dictate the need for surgery...
  40. ncbi A novel approach to the management of severe facial disfigurement in neurofibromatosis type 1
    Karen E Madill
    Manchester Royal Eye Hospital, Manchester, United Kingdom
    Ophthal Plast Reconstr Surg 23:227-8. 2007
    ..type 1 underwent subtotal anterior exenteration of a blind, unsightly, buphthalmic eye and orbital/eyelid plexiform neurofibroma. Simultaneously, a channeled Medpor orbital implant was positioned to reduce a meningoencephalocele ..
  41. ncbi Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromas
    Dusica Babovic-Vuksanovic
    Department of Medical Genetics, Mayo College of Medicine, Rochester, MN, USA
    Pediatr Neurol 36:293-300. 2007
    ..The second dose level was the pharmacokinetically comparable dose and is being used in an ongoing phase II trial of pirfenidone for children with neurofibromatosis 1 and progressive plexiform neurofibroma.
  42. ncbi Facial plexiform neurofibroma in a child with neurofibromatosis type I: a case report
    K Patil
    Department of Oral Medicine and Radiology, J S S Dental College and Hospital, S S Nagar, Mysore 15, India
    J Indian Soc Pedod Prev Dent 25:30-5. 2007
    b>Plexiform neurofibroma is a non-circumscribed, thick and irregular benign tumor of the peripheral nerve sheath. It is a virtually pathognomonic and often disabling feature of neurofibromatosis type I...
  43. ncbi [Paraesophageal mass in the posterior mediastinum]
    P Cattan
    Service de Chirurgie Generale, digestive et endocrinienne, Hôpital Saint Louis Paris
    J Chir (Paris) 143:389-95. 2006
  44. ncbi [Unilateral facial and cerebral hyperplasia associated with neurofibromatosis type 1. Report of four patients]
    I Pascual-Castroviejo
    Servicio de Neurología Pediátrica, Hospital Universitario La Paz, 28046 Madrid, Espana
    Rev Neurol 43:346-52. 2006
    b>Plexiform neurofibroma in any location is one of the commonest complications associated with neurofibromatosis type 1 (NF1)...
  45. ncbi Resection of benign sciatic notch dumbbell-shaped tumors
    Robert J Spinner
    Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Neurosurg 105:873-80. 2006
    ....
  46. ncbi A systematic multiple stage surgical approach for attainment of satisfactory and favourable surgical results in an extremely severe von Recklinghausen's disease, elephantiasis neurofibromatosa
    Satoru Nagata
    Department of Reconstructive Plastic Surgery, 1 7 3 Soya, Ichikawa City, Chiba Prefecture 272 0863, Japan
    J Plast Reconstr Aesthet Surg 59:662-74. 2006
    ..The systematic multiple stage surgical approach for an extremely severe von Recklinghausen's disease, elephantiasis neurofibromatosa is presented and discussed in detail...
  47. ncbi Plexiform neurofibromas of the brachial plexuses
    Boguslaw Paradowski
    Neurology 64:1943. 2005
  48. ncbi Intestinal mesenteric involvement with plexiform neurofibroma in neurofibromatosis type 1
    Mustafa Imamoglu
    Department of Pediatric Surgery, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
    Pediatr Int 48:337-9. 2006
  49. ncbi Radiofrequency in the treatment of craniofacial plexiform neurofibromatosis: a pilot study
    Bertr Baujat
    Department of Head and Neck Surgery, Hopital Foch, Suresnes, France
    Plast Reconstr Surg 117:1261-8. 2006
    ..The medical treatment of this disease is disappointing, and the surgical management of these deformities calls for aggressive procedures. There is a strong risk of recurrence...
  50. ncbi Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas
    Anja Overdiek
    Department of Maxillofacial and Facial Plastic Surgery, Marienhospital, Friedrich Ebert Allee 100, D 52066 Aachen, Germany
    Brain Dev 28:275-80. 2006
    ..However, despite other typical NF1-associated features (e.g. multiple café-au-lait spots) diagnosis of a plexiform neurofibroma as underlying cause for the hemifacial hypertrophy was significantly delayed in all patients...
  51. ncbi Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromas
    Brigitte C Widemann
    Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA
    J Clin Oncol 24:507-16. 2006
    ....
  52. doi Histopathologically dysplastic neurofibromas in neurofibromatosis 1: diagnostic criteria, prevalence and clinical significance
    L Valeyrie-Allanore
    Department of Dermatology, National Neurofibromatosis Centre, Paris XII University, Henri Mondor Hospital, AP HP, F 94010 Créteil Cedex, France
    Br J Dermatol 158:1008-12. 2008
    ..Malignant peripheral nerve sheath tumours (MPNSTs) correspond to the most frequent and aggressive neoplasic complications associated with poor prognosis in neurofibromatosis 1...
  53. ncbi [Monstrous, malignant degenerating neurofibroma of the lower leg in Recklinghausen disease]
    Victor F Mautner
    Dtsch Med Wochenschr 129:1526. 2004
  54. ncbi Familial segmental neurofibromatosis
    Sibel Oguzkan
    Department of Medical Biology, University of Hacettepe, Ankara, Turkey
    J Child Neurol 19:392-4. 2004
    ..The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations...
  55. ncbi Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images
    R E Friedrich
    Department of OMFS, Eppendorf University Hospital, University of Hamburg, Germany
    Anticancer Res 23:949-52. 2003
    This article describes some types of growth in plexiform neurofibroma (PNF) on magnetic resonance images (MRI). This tumor is almost exclusively associated with NF1...
  56. pmc Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
    E Ars
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    J Med Genet 40:e82. 2003
  57. ncbi Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromas
    Tina Young Poussaint
    Department of Radiology, Children s Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA 02115, USA
    AJR Am J Roentgenol 180:419-23. 2003
    ..This article validates the reproducibility of MR imaging volumetric measurements for evaluating the growth of plexiform neurofibromas in neurofibromatosis type 1...
  58. ncbi Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1
    A Gupta
    Department of Neurology, Cleveland Clinic Foundation, OH 44195, USA
    Neurology 60:130-2. 2003
    ..phase I trial of thalidomide (TL) in 20 patients with neurofibromatosis 1 (NF1) treated symptomatic plexiform neurofibroma (PNF). TL was well tolerated in doses up to 200 mg/d...
  59. ncbi [Abnormalities of the maxillary sinus in type 1 neurofibromatosis]
    R E Friedrich
    Klinik fur Mund, Kiefer und Gesichtschirurgie, Nordwestdeutsche Kieferklinik, Universitatsklinikum Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg
    Mund Kiefer Gesichtschir 6:363-7. 2002
    ..The aim of this study was to determine the malformations of the maxillary sinus in neurofibromatosis type 1 patients (NF1)...
  60. ncbi Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literature
    Mary S Payne
    Department of Neurology, Children s Hospital, New Orleans, Louisiana 70118, USA
    J Child Neurol 18:504-8. 2003
    ..of neurofibromatosis 1 a magnetic resonance image of the neural axis was obtained, which revealed a plexiform neurofibroma with spinal cord impingement...
  61. ncbi Clinics in diagnostic imaging (96). Plexiform neurofibromatosis
    P Visrutaratna
    Department of Radiology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
    Singapore Med J 45:188-92. 2004
    ..Histopathological examination revealed plexiform neurofibromas. CT and MR imaging findings in neurofibromatosis type 1 patients with craniofacial abnormalities are discussed...
  62. ncbi Orbit deformities in craniofacial neurofibromatosis type 1
    Claude Jacquemin
    Diagnostic Imaging Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    AJNR Am J Neuroradiol 24:1678-82. 2003
    ..Orbital changes support the concept of secondary dysplasia, in which interaction of PNFs with the developing skull is a major component of the multifaceted craniofacial changes possible with NF1...
  63. ncbi Large recurrent plexiform neurofibroma of the foot and ankle
    Lee L Q Pu
    Division of Plastic Surgery, University of Kentucky College of Medicine, Lexington, Kentucky, USA
    Microsurgery 24:67-71. 2004
    b>Plexiform neurofibroma often causes significant pain, deformity, and functional problems in the affected part of the body...
  64. ncbi [Value of MRI in hepatic plexiform neurofibromatosis. Case report]
    Jean Pierre Imbert
    Service de Radiologie Digestive, Pavillon H Radiologie, Hopital Edouard Herriot, CHU Lyon, 69003 Lyon, France
    Gastroenterol Clin Biol 26:791-3. 2002
    ..Furthermore, MR imaging should be the first line noninvasive exploration for follow-up or biopsy guidance if progression to sarcomatosis is suspected...
  65. ncbi Plexiform neurofibroma of the larynx in a child
    Emre A Yucel
    Department of Otolaryngology, Istanbul University, Faculty of Medicine, Istanbul, Turkey
    J Laryngol Otol 116:49-51. 2002
    A case of a female child of six years of age with a plexiform neurofibroma of the larynx caused by von Recklinghausen's disease is presented...
  66. ncbi [Difficult surgical management of facial neurofibromatosis type I or von Recklinghausen disease in children]
    Y Heuze
    Clinique de Stomatologie et Chirurgie Maxillo faciale, CHU Hotel Dieu, 1, Place Alexis Ricordeau, 44093 Nantes Cedex 01, France
    Rev Stomatol Chir Maxillofac 103:105-13. 2002
    ..Infiltration of facial soft tissues by plexiform neurofibroma is difficult to control...
  67. ncbi Association of urticaria pigmentosa with café-au-lait spots, neurofibromas and neurofibroma-like neoplasms: a mere coincidence?
    Matthias Möhrenschlager
    Department of Dermatology and Allergy Biederstein, Technical University of Munich, Germany
    Dermatology 206:297-302. 2003
    ..Urticaria pigmentosa (UP) is characterized by dense aggregates of mast cells in the dermis. There is consistent evidence from the literature that mast cells may play a pathogenetic role in the development of neurofibromas and other tumors...
  68. ncbi Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    E Ars
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Avia Castelldefels, Km 2 7, L Hospitalet de Llobregat, 08907 Barcelona, Spain
    Hum Mol Genet 9:237-47. 2000
    ..It is possible that part of the clinical variability in NF1 could be due to mutations affecting mRNA splicing, which is the most common molecular defect in NF1...
  69. ncbi Therapy for plexiform neurofibromas in children with neurofibromatosis 1: an overview
    Roger J Packer
    Department of Neurology and Pediatrics, Center for Neuroscience and Behavioral Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    J Child Neurol 17:638-41; discussion 646-51. 2002
    ..The use of innovative neuroimaging techniques and other outcome measures may greatly improve the design of trials and evaluation of potential effective agents...
  70. doi Craniovertebral junction neoplasms in the pediatric population
    Arnold H Menezes
    Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, 1824 JPP, Iowa City, IA 52242, USA
    Childs Nerv Syst 24:1173-86. 2008
    ..The incidence of tumors at the craniovertebral junction in the pediatric population is low. Because of the variable pathology and the rarity of these tumors, ideal therapies are only now being defined...
  71. ncbi [Managing children with neurofibromatosis type 1: what should we look for?]
    Cristina L Martins
    Unidade de Neuropediatria e Desenvolvimento, Centro de Desenvolvimento da Criança Torrado da Silva, Servico de Pediatria, Hospital Garcia de Orta, Almada
    Acta Med Port 20:393-400. 2007
    ..NF1 is a variable condition concerning its clinical manifestations. It may also present different complications through life--a capital issue to pediatric management...
  72. ncbi Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene
    Reinhard E Friedrich
    Maxillofacial Surgery Clinic, Eppendorf University Hospital, University of Hamburg, Germany
    Anticancer Res 25:1699-702. 2005
    b>Plexiform neurofibroma (PNF) is a typical feature of neurofibromatosis 1 (NF1)...
  73. doi Malignant peripheral nerve sheath tumors of cranial nerves and intracranial contents: a clinicopathologic study of 17 cases
    Bernd W Scheithauer
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Am J Surg Pathol 33:325-38. 2009
    ..Identifiable precursor lesions included schwannoma (n=4), plexiform neurofibroma (n=2), and solitary intraneural neurofibroma (n=2)...
  74. ncbi Non-random associations and vascular fields in neurofibromatosis 1: a pathogenetic hypothesis
    Mark S Lubinsky
    Am J Med Genet A 140:2080-4. 2006
    ..Tissue samples from four of these showed an unusual fibrous plexiform neurofibroma. Interestingly, five of the six cases were African Americans, and constitutional factors affecting fibrous ..
  75. ncbi Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1
    Yuqiang Fang
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Anticancer Res 29:1255-62. 2009
    ..patients with underlying NF1, and usually arise as a result of malignant transformation of a pre-existing plexiform neurofibroma. The clonal cytogenetic abnormalities reported in primary MPNST include complex karyotypes with chromosome ..
  76. ncbi Expression of insulin-like growth-factor-1 receptor (IGF-1R) in peripheral nerve sheath tumors in neurofibromatosis type 1
    R E Friedrich
    Maxillofacial Surgery Clinic, Eppendorf University Hospital, University of Hamburg, Germany
    Anticancer Res 27:2085-90. 2007
    ..NF1 is a progressive disease with phase-like growth spurts of dermal or plexiform neurofibroma (PNF). These tumors can cause severe disfigurement of patients...
  77. ncbi Delayed rectifier K currents in NF1 Schwann cells. Pharmacological block inhibits proliferation
    Lynne A Fieber
    Division of Marine Biology and Fisheries, University of Miami Rosenstiel School, 4600 Rickenbacker Cswy, Miami, FL 33149, USA
    Neurobiol Dis 13:136-46. 2003
    ..Normal SC cultures had significantly more cells with A type current than cultures of MPNST and the plexiform neurofibroma. Conversely, MPNST and plexiform neurofibroma cultures had significantly more SC with DR current than did ..
  78. doi Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2
    Elizabeth A Grant
    School of Medicine, Oregon Health and Science University, Portland, Oregon 97239, USA
    Ophthalmic Genet 29:133-8. 2008
    ..To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE)...
  79. ncbi Recent developments in neurofibromatosis type 1
    Ming Jen Lee
    Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University School of Medicine, Taipei, Taiwan
    Curr Opin Neurol 20:135-41. 2007
    ..This review summarizes the recent clinical and genetic developments in neurofibromatosis type 1 (NF1) and provides an insight into the possible underlying pathomechanisms...
  80. doi [Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1)]
    B Rilliet
    Service de Neurochirurgie, Hopital Cantonal Universitaire, 3 4, rue G Perret Gentil, 1211 Geneve 14, Suisse
    Neurochirurgie 56:257-70. 2010
    ..Progressive deformation of the orbital frame due to the expanding plexiform neurofibroma and buphthalmos occurs in a large proportion of cases...
  81. ncbi Multicenter study of wound healing in neurofibromatosis and neurofibroma
    Takeshi Miyawaki
    Institute for Craniofacial and Reconstructive Surgery, Affiliated with Providence Hospital, Southfield, Michigan 48075, USA
    J Craniofac Surg 18:1008-11. 2007
    ..The clinical diagnosis was NF-1 in 57 cases, solitary neurofibroma in 35 cases, plexiform neurofibroma in four cases, and no distinct clinical diagnosis in five cases...
  82. ncbi [Extracerebral neoplastic manifestations in neurofibromatosis 1: integrated diagnostic imaging]
    F Ferrozzi
    Istituto di Scienze Radiologiche, Universita degli Studi, Parma
    Radiol Med 96:562-9. 1998
    ..To analyze the extracerebral manifestations of type 1 neurofibromatosis (NF-1), with special reference to peripheral nerve tumors...
  83. pmc Analysis of steroid hormone effects on xenografted human NF1 tumor schwann cells
    Hua Li
    Department of Molecular Genetics and Microbiology, College of Medicine, University of Florida, Gainesville, FL, USA
    Cancer Biol Ther 10:758-64. 2010
    ..SC-enriched cultures derived from three human NF1 tumor types (dermal neurofibroma, plexiform neurofibroma, and malignant peripheral nerve sheath tumor (MPNST)) were xenografted in sciatic nerves of ovariectomized ..
  84. pmc Neurofibromatosis of the nipple-areolar area: a case series
    Maria Rita Bongiorno
    Department of Dermatology, University of Palermo, Sicily, Palermo, Italy
    J Med Case Reports 4:22. 2010
    ..One of the most noticeable characteristics of the disease is the development of neurofibromas...
  85. ncbi Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line
    George Q Perrin
    Department of Neuroscience, College of Medicine, University of Florida, Gainesville, FL 32610 0244, USA
    J Neurosci Res 85:1347-57. 2007
    ..The histologic features of the developed tumors were particularly consistent with those of human plexiform neurofibroma as well. Intraneural xenograft of sNF94...
  86. pmc CD44 and p53 immunoexpression patterns in NF1 neoplasms - indicators of malignancy and infiltration
    Nicole D Riddle
    Department of Pathology and Cell Biology, University of South Florida, Tampa, FL 33610, USA
    Int J Clin Exp Pathol 3:515-21. 2010
    ..b>Plexiform neurofibroma did not differ from other benign lesions in their expression of p53...
  87. ncbi Midline cutaneous lumbosacral lesions: not always a sign of occult spinal dysraphism
    Juan F Martínez-Lage
    Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, El Palmar, 30120, Murcia, Spain
    Childs Nerv Syst 22:623-7. 2006
    ..The authors report two unusual cases of extraspinal midline lumbosacral lesions that resembled the usual skin markers of occult spina bifida...
  88. ncbi Psoriatic skin expresses the transcription factor Gli1: possible contribution of decreased neurofibromin expression
    H Endo
    Department of Dermatology, Chiba Aoba Municipal Hospital, 1273 2 Aoba cho, Chuo Ku, Chiba 260 0852, Japan
    Br J Dermatol 154:619-23. 2006
    ..We have previously observed activation of the Hh signalling pathway in Schwann cells of plexiform neurofibroma in neurofibromatosis type 1 (NF1), which results from functional loss of the NF1 encoding protein, ..
  89. doi Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    J Neuropathol Exp Neurol 69:60-9. 2010
    ..CCN4/WISP1 was upregulated, and CCN3/NOV and CCN5/WISP2 were downregulated in paired comparisons of plexiform neurofibroma and malignant peripheral nerve sheath tumor from the same patients...
  90. ncbi Vacuolated cells in neurofibroma: an immunohistochemical study
    Hideo Hattori
    Department of Pathology, Kariya General Hospital, Kariya, Aichi, Japan
    J Cutan Pathol 32:158-61. 2005
    ..Vacuolated cells could be encountered in neurofibroma...
  91. ncbi Mesenchymal neoplasms of the major salivary glands: clinicopathological features of 18 cases
    Kyung Ja Cho
    Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, 388 1 Pungnap dong, Songpa Gu, Seoul 138 736, South Korea
    Eur Arch Otorhinolaryngol 265:S47-56. 2008
    ..Schwannomas were the most common benign tumors (six cases), followed by lipomas (three cases), plexiform neurofibroma, hemangioma, desmoid tumor, and solitary fibrous tumor (one each)...
  92. doi Transformation of intracranial anaplastic astrocytoma associated with neurofibromatosis type I into gliosarcoma: case report
    Jin Hwan Cheong
    Department of Neurosurgery, Hanyang University College of Medicine, Seoul, Republic of Korea
    Clin Neurol Neurosurg 112:701-6. 2010
    ..A month later, his spinal lesion was also resected and confirmed pathologically as plexiform neurofibroma. The subsequent follow-up period of 27 months was uneventful until he developed a generalized tonic-clonic ..
  93. ncbi Morphological spectrum of peripheral nerve sheath tumors: a series of 126 cases
    Sushma Kashinath Gabhane
    Department of Pathology, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India
    Indian J Pathol Microbiol 52:29-33. 2009
    ..Eleven (8.73%) patients with NF1 showed a strong association with plexiform neurofibroma. A malignant transformation in pre-existing neurofibroma was seen in 1 patient with NF1...
  94. ncbi Conditional N-rasG12V expression promotes manifestations of neurofibromatosis in a mouse model
    H Saito
    Department of Animal Genomics, Functional Genomics Institute, Mie University Life Science Research Center, Edobashi, Tsu, Mie, Japan
    Oncogene 26:4714-9. 2007
    ..In the 5th month, some developed protruding dermal neurofibromas involving subcutaneous fat. However, plexiform neurofibroma, schwannoma, astrocytoma and pheochromocytoma were not observed in the mice, suggesting a requirement for ..
  95. ncbi Lipoblast-like signet-ring cells in neurofibroma: a potential diagnostic pitfall of malignancy
    G M Vecchio
    Department G F Ingrassia, Section of Anatomic Pathology, University of Catania, Italy
    Pathologica 102:108-11. 2010
    ..We report the first case of a plexiform neurofibroma from a NF1 patient containing exclusively lipoblast-like cells exhibiting morphological and ..
  96. doi [Isolated late-onset plexiform neurofibroma in the absence of neurofibromatosis]
    A Levy Bencheton
    Service de Dermatologie, Hopital Sainte Marguerite, Universite de la Mediterranee Aix Marseille II, 270, boulevard de Sainte Marguerite, 13009 Marseille, France
    Ann Dermatol Venereol 137:301-4. 2010
    b>Plexiform neurofibroma (NFP) is a benign nervous tumour typically involving the head and neck region due to the rich innervation of the latter. It is considered pathognomonic of neurofibromatosis type 1(NF1)...
  97. ncbi Case studies for illustration and discussion: peripheral nerve tumors
    Jason H Huang
    Department of Neurosurgery, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA
    Neurosurg Clin N Am 15:241-9, viii. 2004
    ..Cases 6 through 8 illustrate a plexiform neurofibroma, a malignant peripheral nerve sheath tumor, and a metastatic carcinoma to the brachial plexus region...
  98. ncbi Neurogenic tumors of the neck
    A L Weber
    Department of Radiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Radiol Clin North Am 38:1077-90. 2000
    ..The plexiform neurofibroma and multiple localized neurofibromas are characteristic of NF1...
  99. pmc A case of isolated plexiform neurofibroma in a patient with myasthenia gravis
    Seung Ju Back
    Department of Dermatology, College of Medicine, Chungnam National University, Daejeon, Korea
    Ann Dermatol 21:53-5. 2009
    We report a case of an isolated plexiform neurofibroma occurring in a patient with myasthenia gravis. A 48-year-old man presented with asymptomatic skin-colored nodules on the tip of his 4th finger...
  100. ncbi Atypical plexiform neurofibroma in NF1 with high standardised uptake value (SUV) in positron-emission tomography (PET) expressing podoplanin
    Reinhard E Friedrich
    Department of Maxillofacial Surgery, University Medical Center Hamburg Eppendorf, University of Hamburg, Martinistr 52, D 20246 Hamburg, Germany
    In Vivo 24:871-6. 2010
    ..The extirpated tumour proved to be an atypical plexiform neurofibroma. Immunohistochemical investigations revealed a strong positive reaction of tumour cells for S-100 protein...
  101. ncbi Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma
    V F Mautner
    Department of Neurology, Klinikum Nord Hamburg, Langenhorner Chaussee 560, 22419 Hamburg, Germany
    Neuroradiology 45:618-25. 2003
    b>Plexiform neurofibroma (PNF) is a typical feature of neurofibromatosis 1 (NF1)...

Research Grants17

  1. The role of Pak1 in regulating plexiform neurofibroma formation
    Andrew McDaniel; Fiscal Year: 2007
    ..Pak1) in molecular pathways responsible for specific cellular and biochemical phenotypes associated with plexiform neurofibroma formation resulting from the genetic disorder Neurofibromatosis Type I (NF1)...
  2. Neurological Sciences Academic Development at CNMC
    Roger Packer; Fiscal Year: 2007
    ....
  3. Pirfenidone in Children with PNs in NF1
    Roger Packer; Fiscal Year: 2006
    ..Abstract Not Provided ..
  4. CHILDRENS NATIONAL MEDICAL CENTER
    Roger Packer; Fiscal Year: 2003
    ....
  5. Phenotyping & genotype-phenotype correlations in NF1
    Bruce Korf; Fiscal Year: 2006
    ..abstract_text> ..