Neurofibromatosis Diagnosis

Most patients with neurofibromatosis receive their diagnosis during infancy or childhood. The initial symptoms often develop within the first few weeks of life; others typically become apparent over the next the next several years. Because of this early onset of symptoms, it is often possible to detect neurofibromatosis early on in a patient’s life.

In many cases, a neurofibromatosis diagnosis can be made based on a visual examination. A physician may assign a clinical diagnosis if a patient has two or more of the following signs:

  • Six or more small, light brown areas (café-au-lait spots) on the surface of the skin
  • Two or more neurofibromas (painless, non-cancerous tumors) on or underneath the skin
  • One or more deep tissue neurofibromas
  • Patches of freckling in the armpit and/or groin
  • Tumors in one or both eyes that cause vision loss (optic pathway glioma)
  • Abnormalities in bone development
  • Clear, yellow or brown bumps on the surface of the iris (Lisch nodules)
  • A first-degree relative (parent, child, brother or sister) who has also been diagnosed with neurofibromatosis

Although a visual examination is often sufficient to make a neurofibromatosis diagnosis, it is not possible to confirm the presence of chromosomal abnormalities without advanced laboratory testing.

During the diagnostic process, one or more biopsies (tissue tests) may be ordered to check for the genetic mutations associated with neurofibromatosis.

At Moffitt Cancer Center, we offer a comprehensive range of diagnostic testing services, including genetic tests and visual examinations. Additionally, our oncologists have treated many cases of neurofibromatosis – including NF1, NF2 and schwannomatosis – and are highly familiar with the symptoms each one tends to produce. If a diagnosis of neurofibromatosis is confirmed, our team can promptly provide an individualized treatment plan after taking into account each of the patient’s symptoms.

No referral is required to schedule a consultation with a member of our team. To discuss a potential neurofibromatosis diagnosis with one of our experienced oncologists, call 1-888-MOFFITT or submit a new patient registration form online.