Stephen J. Schueler, M.D.

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Neurofibromatosis Overview

What is neurofibromatosis?
A person with neurofibromatosis has abnormal nerve cells that multiply out of control. The abnormal cells form tumors around nerves in the skin, spinal cord, and brain. These tumors can place pressure against the nerves, spinal cord and brain, causing them to malfunction. Neurofibromatosis is an inherited disease; the body lacks a protein that normally prevents tumors from forming.

What are the symptoms of neurofibromatosis?
Symptoms of neurofibromatosis vary with the location of the tumors. Common symptoms of neurofibromatosis include coffee-colored skin lesions, freckling of the skin in the armpits, and soft tissue tumors that hang from the skin. Additional symptoms of neurofibromatosis include dizziness, tinnitus, scoliosis, and poor balance.

How does the doctor treat neurofibromatosis?
There is no cure for neurofibromatosis. Treatment for neurofibromatosis may include chemotherapy and surgery.

Continue to Neurofibromatosis Incidence

Last Updated: Jul 31, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Neurofibromatosis References
  1. Boulanger JM, Larbrisseau A. Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience. Can J Neurol Sci. 2005 May;32(2):225-31. [16018159]
  2. Neff BA, Welling DB. Current concepts in the evaluation and treatment of neurofibromatosis type II. Otolaryngol Clin North Am. 2005 Aug;38(4):671-84, ix. [16005725]
  3. Young H, Hyman S, North K. Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol. 2002 Aug;17(8):613-21. [12403560]
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