There is currently no cure or treatment for NF1 that can reverse or prevent most complications. Because of this, medical management of the condition focuses on the early detection of treatable complications. This often includes surgery to remove or reduce the size of neurofibromas and the evaluation and management of learning disabilities.

The medical management of NF1 should include the following components:

  • Comprehensive annual medical evaluation. In general, a person diagnosed with or suspected of having NF1 should have a complete medical evaluation at least once a year. This exam should be performed by a physician familiar with the disorder and connected to appropriate medical consultants and specialists who can assist with specific problems that may be found. During a typical evaluation, a doctor takes a medical history and performs physical, neurological, and ophthalmologic examinations. Careful attention should also be paid to any new signs or symptoms of NF1, especially changes in skin symptoms such as the growth of or pain in a neurofibroma (skin tumor). In some cases, surgery may be considered for some tumors.
  • Early identification of potential learning disabilities related to NF1. A child’s school progress should be carefully monitored and discussed during annual medical evaluations. If a learning disability is suspected, your doctor can help you determine the next steps, including how to talk with your child’s teachers.
  • Careful monitoring of café-au-lait spots in children with no confirmed diagnosis. A child with multiple café-au-lait spots but no confirmed diagnosis is still at risk of developing NF1-related complications. Because of this, his or her development should be followed with an annual medical evaluation as if the disorder was confirmed to be present.
  • Annual eye examinations. Comprehensive eye examinations are an important part of managing NF1. A distinct feature of NF1 called Lisch nodules – small bumps on the iris of the eye – can help in establishing a diagnosis of NF1. Examining the eye for Lisch nodules requires a specialized tool called a slit lamp and is usually performed by a specialist. Lisch nodules, if present, are not medically significant and do not interfere with vision. However, other complications of NF1, such as optic glioma or problems with bone structure behind the eye (such as the orbit) are more serious and should be checked for by an eye specialist.
  • The use of X-rays and imaging tests as needed. Sometimes the signs or symptoms of bone and neurological problems require further investigation using imaging tests such as a CT or MRI scan of the brain. We do not recommend that all patients with NF1 have imaging studies done for screening purposes, but use imaging to address specific clinical problems or concerns. 

For more information, please contact the UAB Neurofibromatosis Program at 205-934-4983.