Type 1 Neurofibromatosis Differential Diagnoses

  • Author: Beth A Pletcher, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Feb 6, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Beth A Pletcher, MD  Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey

Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Ann M Neumeyer, MD  Medical Director, Lurie Family Autism Center/LADDERS; Assistant Professor of Neurology, Harvard Medical School; Child Neurologist, Massachusetts General Hospital

Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, and Massachusetts Medical Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

References

  1. Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet. Dec 2 1996;66(1):7-10. [Medline].

  2. Darrigo LG Jr, Geller M, Bonalumi Filho A, et al. Prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis. J Pediatr (Rio J). Nov-Dec 2007;83(6):571-3. [Medline].

  3. Rodriguez FJ, Perry A, Gutmann DH, et al. Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients. J Neuropathol Exp Neurol. Mar 2008;67(3):240-9. [Medline].

  4. Porter DE, Prasad V, Foster L, Dall GF, Birch R, Grimer RJ. Survival in Malignant Peripheral Nerve Sheath Tumours: A Comparison between Sporadic and Neurofibromatosis Type 1-Associated Tumours. Sarcoma. 2009;2009:756395. [Medline].

  5. Basile U, Cavallaro G, Polistena A, Giustini S, Orlando G, Cotesta D. Gastrointestinal and Retroperitoneal Manifestations of Type 1 Neurofibromatosis. J Gastrointest Surg. Jun 3 2009;[Medline].

  6. Hegyi L, Thway K, Newton R, Osin P, Nerurkar A, Hayes AJ. Malignant myoepithelioma arising in adenomyoepithelioma of the breast and coincident multiple gastrointestinal stromal tumours in a patient with neurofibromatosis type 1. J Clin Pathol. Jul 2009;62(7):653-5. [Medline].

  7. Yamamoto H, Tobo T, Nakamori M, Imamura M, Kojima A, Oda Y. Neurofibromatosis type 1-related gastrointestinal stromal tumors: a special reference to loss of heterozygosity at 14q and 22q. J Cancer Res Clin Oncol. Jun 2009;135(6):791-8. [Medline].

  8. Brunetti-Pierri N, Doty SB, Hicks J, et al. Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. May 2008;94(1):105-11. [Medline].

  9. Stevenson DA, Schwarz EL, Viskochil DH, et al. Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis. Pediatr Res. Jun 2008;63(6):697-701. [Medline].

  10. Seitz S, Schnabel C, Busse B, Schmidt HU, Beil FT, Friedrich RE, et al. High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1. Osteoporos Int. Jan 2010;21(1):119-27. [Medline].

  11. Tucker T, Schnabel C, Hartmann M, Friedrich RE, Frieling I, Kruse HP. Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet. Apr 2009;46(4):259-65. [Medline].

  12. Smith A, Araoz PA, Kirsch J. Coronary arterial aneurysms in neurofibromatosis 1: case report and review of the literature. J Thorac Imaging. May 2009;24(2):129-31. [Medline].

  13. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet. Jul 2009;46(7):431-7. [Medline].

  14. Karagiannis A, Mikhailidis DP, Athyros VG, et al. Pheochromocytoma: an update on genetics and management. Endocr Relat Cancer. Dec 2007;14(4):935-56. [Medline].

  15. Lenders JW, Pacak K, Walther MM, et al. Biochemical diagnosis of pheochromocytoma: which test is best?. JAMA. Mar 20 2002;287(11):1427-34. [Medline].

  16. Tucker T, Friedman JM, Friedrich RE, Wenzel R, Fünsterer C, Mautner VF. Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet. Feb 2009;46(2):81-5. [Medline].

  17. Iannicelli E, Rossi G, Almberger M, et al. Integrated imaging in peripheral nerve lesions in type 1 neurofibromatosis. Radiol Med (Torino). Apr 2002;103(4):332-43. [Medline].

  18. Matsumine A, Kusuzaki K, Nakamura T, Nakazora S, Niimi R, Matsubara T, et al. Differentiation between neurofibromas and malignant peripheral nerve sheath tumors in neurofibromatosis 1 evaluated by MRI. J Cancer Res Clin Oncol. Jul 2009;135(7):891-900. [Medline].

  19. Pacak K, Eisenhofer G, Ahlman H, et al. Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005. Nat Clin Pract Endocrinol Metab. Feb 2007;3(2):92-102. [Medline].

  20. Benz MR, Tchekmedyian N, Eilber FC, Federman N, Czernin J, Tap WD. Utilization of positron emission tomography in the management of patients with sarcoma. Curr Opin Oncol. Jul 2009;21(4):345-51. [Medline].

  21. Levine E, Huntrakoon M, Wetzel LH. Malignant nerve-sheath neoplasms in neurofibromatosis: distinction from benign tumors by using imaging techniques. AJR Am J Roentgenol. Nov 1987;149(5):1059-64. [Medline].

  22. Wojtkowiak JW, Fouad F, LaLonde DT, et al. Induction of apoptosis in neurofibromatosis type 1 malignant peripheral nerve sheath tumor cell lines by a combination of novel farnesyl transferase inhibitors and lovastatin. J Pharmacol Exp Ther. Jul 2008;326(1):1-11. [Medline].

  23. Ambrosini G, Cheema HS, Seelman S, et al. Sorafenib inhibits growth and mitogen-activated protein kinase signaling in malignant peripheral nerve sheath cells. Mol Cancer Ther. Apr 2008;7(4):890-6. [Medline].

  24. Johansson G, Mahller YY, Collins MH, et al. Effective in vivo targeting of the mammalian target of rapamycin pathway in malignant peripheral nerve sheath tumors. Mol Cancer Ther. May 2008;7(5):1237-45. [Medline].

  25. Slomiany MG, Dai L, Bomar PA, Knackstedt TJ, Kranc DA, Tolliver L, et al. Abrogating drug resistance in malignant peripheral nerve sheath tumors by disrupting hyaluronan-CD44 interactions with small hyaluronan oligosaccharides. Cancer Res. Jun 15 2009;69(12):4992-8. [Medline].

  26. Hari Kumar KV, Shaikh A, Sandhu AS, Prusty P. Neurofibromatosis 1 with pheochromocytoma. Indian J Endocrinol Metab. Oct 2011;15 Suppl 4:S406-8. [Medline]. [Full Text].

  27. Gerszten PC, Burton SA, Ozhasoglu C, et al. Radiosurgery for benign intradural spinal tumors. Neurosurgery. Apr 2008;62(4):887-95; discussion 895-6. [Medline].

  28. Bravo EL, Tagle R. Pheochromocytoma: state-of-the-art and future prospects. Endocr Rev. Aug 2003;24(4):539-53. [Medline].

  29. AAP Committee on Genetics. Health supervision for children with neurofibromatosis. American Academy of Pediatrics Committee on Genetics. Pediatrics. Aug 1995;96(2 Pt 1):368-72. [Medline].

  30. Chander S, Westphal SM, Zak IT, et al. Retroperitoneal malignant peripheral nerve sheath tumor: evaluation with serial FDG-PET. Clin Nucl Med. Jul 2004;29(7):415-8. [Medline].

  31. DeClue JE, Cohen BD, Lowy DR. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci U S A. Nov 15 1991;88(22):9914-8. [Medline].

  32. Deliganis AV, Geyer JR, Berger MS. Prognostic significance of type 1 neurofibromatosis (von Recklinghausen Disease) in childhood optic glioma. Neurosurgery. Jun 1996;38(6):1114-8; discussion 1118-9. [Medline].

  33. Denckla MB, Hofman K, Mazzocco MM, et al. Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet. Feb 16 1996;67(1):98-102. [Medline].

  34. Drouet A, Wolkenstein P, Lefaucheur JP, et al. Neurofibromatosis 1-associated neuropathies: a reappraisal. Brain. Sep 2004;127:1993-2009. [Medline].

  35. Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. May 2002;39(5):311-4. [Medline].

  36. Ferner RE, Hughes RA, Hall SM, et al. Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet. Nov 2004;41(11):837-41. [Medline].

  37. Gutmann DH, Collins FS. The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron. Mar 1993;10(3):335-43. [Medline].

  38. Habiby R, Silverman B, Listernick R, et al. Precocious puberty in children with neurofibromatosis type 1. J Pediatr. Mar 1995;126(3):364-7. [Medline].

  39. Hughes RJ, Scoble JE, Reidy JF. Renal angioplasty in non-atheromatous renal artery stenosis: technical results and clinical outcome in 43 patients. Cardiovasc Intervent Radiol. Sep-Oct 2004;27(5):435-40. [Medline].

  40. Karadimas P, Hatzispasou E, Bouzas EA. Retinal vascular abnormalities in neurofibromatosis type 1. J Neuroophthalmol. Dec 2003;23(4):274-5. [Medline].

  41. Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477-85. [Medline].

  42. Levy AD, Patel N, Abbott RM, et al. Gastrointestinal stromal tumors in patients with neurofibromatosis: imaging features with clinicopathologic correlation. AJR Am J Roentgenol. Dec 2004;183(6):1629-36. [Medline].

  43. Listernick R, Ferner RE, Piersall L, et al. Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology. Nov 23 2004;63(10):1944-6. [Medline].

  44. Nakakura S, Shiraki K, Yasunari T, et al. Quantification and anatomic distribution of choroidal abnormalities in patients with type I neurofibromatosis. Graefes Arch Clin Exp Ophthalmol. Oct 2005;243(10):980-4. [Medline].

  45. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. May 1988;45(5):575-8. [Medline].

  46. North KN, Riccardi V, Samango-Sprouse C, et al. Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology. Apr 1997;48(4):1121-7. [Medline].

  47. Riccardi VM. Neurofibromatosis. In: Phenotype, Natural History and Pathogenesis. 2nd ed. Johns Hopkins University Press; 1992.

  48. Scott RM, Smith JL, Robertson RL, Madsen JR, Soriano SG, Rockoff MA. Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg. Feb 2004;100(2 Suppl Pediatrics):142-9. [Medline].

  49. Solomon J, Warren K, Dombi E, et al. Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imaging. Comput Med Imaging Graph. Jul 2004;28(5):257-65. [Medline].

  50. Zacharia TT, Jaramillo D, Poussaint TY, et al. MR imaging of abdominopelvic involvement in neurofibromatosis type 1: a review of 43 patients. Pediatr Radiol. Mar 2005;35(3):317-22. [Medline].

  51. Zöller M, Rembeck B, Akesson HO, et al. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol. Mar 1995;75(2):136-40. [Medline].

 
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Café-au-lait spots in a 4-year-old boy.
Axillary freckles.
Inguinal freckles.
Multiple neurofibromas in a 28-year-old man.
Plexiform neurofibroma of the right thigh.
Lisch nodules.
Radial and ulnar bowing and obliteration of the intramedullary spaces.
Unidentified bright object (UBO) within the brain parenchyma.
Left optic nerve glioma with thickening of the nerve and proptosis.
Below-the-knee amputation for tibial pseudarthrosis.
The young woman pictured here has a plexiform neurofibroma of the eyelid.
 
 
 
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