eMedicine Specialties > Dermatology > Pediatric Diseases

Neurofibromatosis: Treatment & Medication

Author: Jennifer R Kam, MD, Staff Physician, Southtowns Radiology Associates
Coauthor(s): Thomas N Helm, MD, Clinical Associate Professor, Departments of Dermatology and Pathology, State University of New York at Buffalo; Director, Buffalo Medical Group Dermatopathology Laboratory
Contributor Information and Disclosures

Updated: Oct 23, 2009

Treatment

Surgical Care

Treatment of neurofibromatosis is predominantly surgical.

  • When neurofibromas increase in size or cause pain, malignant transformation should be suspected, and excision or biopsy should be performed.
  • Acoustic neuromas and tumors that cause tinnitus and vertigo should be excised with great caution.
  • Any signs of epilepsy should be investigated, and responsible tumors should be removed.

Consultations

  • Orthopedic physicians should be involved in the management of problems, such as tibial bowing and kyphoscoliosis.
  • Plastic surgeons may be included in the correction of deformities, especially those of the face.
  • Psychological or psychiatric assessment may be necessary in monitoring language disorders and learning disabilities.
  • Considering the autosomal dominant inheritance pattern for neurofibromatosis, genetic counseling should be included in the treatment of all patients affected with this disease.

More on Neurofibromatosis

Overview: Neurofibromatosis
Differential Diagnoses & Workup: Neurofibromatosis
Treatment & Medication: Neurofibromatosis
Follow-up: Neurofibromatosis
Multimedia: Neurofibromatosis
References
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References

  1. DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. Mar 2000;105(3 Pt 1):608-14. [Medline].

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

  3. Crawford AH, Schorry EK. Neurofibromatosis update. J Pediatr Orthop. May-Jun 2006;26(3):413-23. [Medline].

  4. Barker D, Wright E, Nguyen K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. May 29 1987;236(4805):1100-2. [Medline].

  5. Rouleau GA, Wertelecki W, Haines JL, et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. Sep 17-23 1987;329(6136):246-8. [Medline].

  6. Kormano M. Tumors of Fatty, Muscular, Neural and Osseous Tissue. In: Radiologic Findings in Skin Diseases and Related Conditions. Paris, France: Thieme; 1999:167.

  7. Stoller DW. Bone and Soft Tissue Tumors. In: Magnetic Resonance Imaging in Orthopaedics & Sports Medicine. 2nd ed. Philadelphia, Pa: Lipponcott-Raven; 1997:1327.

  8. Ferner RE, Lucas JD, O'Doherty MJ, et al. Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. Mar 2000;68(3):353-7. [Medline].

  9. [Guideline] Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. Aug 2007;16(4):387-407. [Medline].

  10. Brockes JP, Breakefield XO, Martuza RL. Glial growth factor-like activity in Schwann cell tumors. Ann Neurol. Sep 1986;20(3):317-22. [Medline].

  11. Fitzpatrick TB. Neurofibromatosis. In: Color Atlas and Synopsis of Clinical Dermatology. New York, NY: McGraw-Hill; 1997:458-62.

  12. Fortman BJ, Kuszyk BS, Urban BA, Fishman EK. Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. May-Jun 2001;21(3):601-12. [Medline].

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  14. Howell SJ, Wilton P, Lindberg A, Shalet SM. Growth hormone replacement and the risk of malignancy in children with neurofibromatosis. J Pediatr. Aug 1998;133(2):201-5. [Medline].

  15. Karnes PS. Neurofibromatosis: a common neurocutaneous disorder. Mayo Clin Proc. Nov 1998;73(11):1071-6. [Medline].

  16. Korf BR. Neuhauser Lecture - 2005 - Bruce Korf, MD. Society for Pediatric Radiology. Available at http://www.pedrad.org/displaycommon.cfm?an=1&subarticlenbr=23. Accessed 2005.

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  18. Otsuka F, Kawashima T, Imakado S, Usuki Y, Hon-Mura S. Lisch nodules and skin manifestation in neurofibromatosis type 1. Arch Dermatol. Feb 2001;137(2):232-3. [Medline].

  19. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet. Oct 1 1994;52(4):450-61. [Medline].

  20. Parry DM, MacCollin MM, Kaiser-Kupfer MI, et al. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet. Sep 1996;59(3):529-39. [Medline].

  21. Reith JD, Goldblum JR. Multiple cutaneous plexiform schwannomas. Report of a case and review of the literature with particular reference to the association with types 1 and 2 neurofibromatosis and schwannomatosis. Arch Pathol Lab Med. Apr 1996;120(4):399-401. [Medline].

  22. Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med. Dec 31 1981;305(27):1617-27. [Medline].

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  25. Ward K, O'Connell P, Carey JC, et al. Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers. Am J Hum Genet. May 1990;46(5):943-9. [Medline].

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Further Reading

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Keywords

neurofibromatosis, von Recklinghausen's disease, von Recklinghausen disease, neurofibromatosis type 1, peripheral NF, neurofibromatosis type 2, central NF, NF-1, NF-2, segmental NF, café au lait macules, Lisch nodules

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Contributor Information and Disclosures

Author

Jennifer R Kam, MD, Staff Physician, Southtowns Radiology Associates
Disclosure: Nothing to disclose.

Coauthor(s)

Thomas N Helm, MD, Clinical Associate Professor, Departments of Dermatology and Pathology, State University of New York at Buffalo; Director, Buffalo Medical Group Dermatopathology Laboratory
Thomas N Helm, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for Dermatologic Surgery, and American Society of Dermatopathology
Disclosure: Nothing to disclose.

Medical Editor

Ponciano D Cruz Jr, MD, Vice-Chair, JB Shelmire Professor, Department of Dermatology, University of Texas Southwestern Medical Center
Ponciano D Cruz Jr, MD is a member of the following medical societies: Texas Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Edward F Chan, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine
Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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