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