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.

Risk Factors

  • Family history of 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