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Neurofibromatosis

more about Neurofibromatosis


Von Recklinghausen's disease



  • This autosomal dominant genetic disorder is characterized by abnormalities of both the nervous system and skin.  An affected parent will pass neurofibromatosis on to half of his/her offspring.  Both sexes are equally affected. Neurofibromatosis is classified as type 1(NF-1) and type 2 (NF-2).

  • Neurofibromatosis type 1:
    1. Tan spots, which called cafe au-lait spots, are often present on the skin, especially on the trunk and extremities at birth, and increase in size, number, and pigmentation with age.
    2. Five or more cafe au-lait spots over 5 mm in greatest diameter in prepubertal patients
    3. Six or more cafe au-lait spots over 15 mm in postpubertal patients
    4. Yellowish or brownish spots that are 2-3 mm in diameter in the groin and in the underarm area
    5. Two or more small and rubbery lumps called neurofibromas may appear under the skin or deeper, especially during adolescence or pregnancy.  Overlying skin is slightly purplish and discolored.
    6. One type of lump called plexiform neurofibroma, a diffuse thickening of nerve truck, is present at birth in the orbital or temporal region of the face.  Overlying skin is hyperpigmented.  It can cause overgrowth of an extremity and a deformity of the bone.
    7. Two or more small brown lumps called Lisch nodules appear on the iris in more than 90% of patients with NF-1.
    8. About 15% of patients with NF-1 have tumors on the optic nerves, which in rare cases may interfere with vision.
    9. A progressive curvature of the spine, bowing of leg bones, pulsating and bulging out of eyes
    10. Learning disabilities, Attention Deficit Disorders, abnormalities of speech, Seizures, large head, hydrocephalus, and psychological disturbances
  • Neurofibromatosis type 2:
    1. Hearing loss, facial weakness, ringing in the ears, dizziness, balance problems, headaches or Seizures caused by masses on both eight nerves (acoustic neuroma)
    2. Occasionally, cafe-au-lait spots or tumors under the skin
    3. Cataracts in 50% of patients with NF-2
    4. Tumors of the brain or spinal cord can develop.

  • Neurofibromatosis is caused by an abnormal gene.  This gene may be inherited from an affected parent, or it may occur as a result of spontaneous change in the genetic material.
    1. The gene for NF-1 is located on chromosome 17
    2. The gene for NF-2 is located on chromosome 22

  • Based on signs and symptoms
  • Neurofibromatosis type 1.  Any two of following:
    1) Five or more cafe au-lait spots over 5 mm in diameter in prepubertal patients or six or more cafe au-lait spots over 15 mm in postpubertal patients; 2) yellowish or brownish spots in the groin or under the underarm area; 3) two or more iris Lisch nodules; 4) two or more neurofibromas or a plexiform neurofibroma; 5) abnormality of the skeleton; 6) optic glioma; 7) and, a first-degree relative with NF-1.
  • Neurofibromatosis type 2: Any one of following:
    1. CT scanning or MRI shows bilateral eight nerve masses
    2. Family history of NF-2 and either unilateral eighth nerve masses or the presence of two of the following: neurofibroma, meningioma, glioma, schwannoma, or cataract
  • Genetic testing
  • Linkage analysis
  • Gene mutation analysis
  • Baseline evaluation for NF
  • Audiogram
  • Auditory brain stem and visual evoked potentials
  • Electroencephalogram
  • Psychological testing
  • Brain CT or MRI

  • No specific treatment
  • Genetic counseling
  • Surgical removal of skin tumor or other tumors
  • Radiation or chemotherapy for tumors on the eye or ear nerves
  • Surgical correction or a brace for Scoliosis
  • Drugs are under development for the treatment of NF1 and NF2.

  • Learning disabilities
  • Speech problems
  • Seizures
  • Psychological abnormalities
  • Malignant tumors

  • You need to contact your pediatrician if your child has the above symptoms.  Early diagnosis allows early treatment and can prevent some complications.




more about Neurofibromatosis


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