Stephen J. Schueler, M.D.

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Von Recklinghausen's Disease Evaluation

The evaluation of neurofibromatosis begins with a history and physical examination.

Physical findings in someone with neurofibromatosis may include:

  • Cafe-au-lait skin lesions:
    • Light coffee color
    • Usually larger than 1.5 cm
  • Freckling of the skin in the armpits
  • Soft tissue tumors that hang from the skin
  • Rubbery skin lumps:
    • Soft nodules under the skin

Testing may be necessary to make the diagnosis of neurofibromatosis.

Tests that may be used to evaluate neurofibromatosis include:

Continue to Von Recklinghausen's Disease Treatment

Last Updated: Dec 21, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Von Recklinghausen's Disease 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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