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Neurofibromatosis

Overview

Neurofibromatosis is a genetic nervous system condition that occurs when a child’s nerve cells fail to communicate properly. As a result, the nerve cells grow out of control, leading to the development of noncancerous tumors on and under the skin. These growths cause changes in skin coloring.

  • Types

    • Neurofibromatosis type 1 (NF1), which typically develops during childhood, can cause light brown spots on the skin and/or benign tumors that develop under the skin. In some cases, the tumors may develop within the brain, spinal cord or cranial nerves.
    • Neurofibromatosis type 2 (NF2), which typically develops during childhood, adolescence or early adulthood, can cause benign tumors on the auditory nerves that impact hearing and balance.
  • Symptoms

    • Abnormally large and deformed bones
    • Atypical spinal curvature
    • Benign tumors under or on the skin
    • Curved lower legs
    • Freckles in the armpit and groin
    • Hearing loss or ear ringing
    • Light brown skin spots
    • Tendency to miss developmental milestones
    • Various learning disabilities
  • Prevention

    • As the condition is genetic in nature, there is nothing a child or parent can do to prevent neurofibromatosis.
  • Diagnosis

    • Medical history and symptom review. If a parent or sibling has neurofibromatosis or a child has symptoms, a full medical history will be performed to aid in the diagnostic process.
    • Physical examination. As symptoms may take a while to appear, children suspected to have neurofibromatosis are often seen by a multidisciplinary team to check for tumors and DNA that indicates the condition.
    • Imaging tests. Definitive diagnosis often relies upon MRI and X-ray imaging.
  • Treatment

    • Medication may be prescribed to manage problematic symptoms from neurofibromatosis complications.
    • Counseling services are often used to help young patients overcome emotional or mental issues that may accompany the condition.
    • Surgical intervention may be called upon to remove problematic tumors or repair areas damaged by the tumors.
  • Follow-up Care

    • Complete annual medical evaluation
    • Regular eye examinations