Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is a genetic disorder of the nervous system that causes tumors to grow along nerves in the skin and nerves of the brain and spinal cord.
These tumors are mostly benign, or noncancerous, and most people with NF1 have a normal life expectancy.
There are two additional, rarer types of neurofibromatosis: neurofibromatosis type 2 (NF2) and schwannomatosis.
NF1: what you should know
- The most distinctive symptom of NF1 is a scattering of light-brown spots (also called café-au-lait spots) on the skin. Six or more spots that measure at least 15 mm across in adults and 5 mm across in children are a likely sign of NF1.
- The symptoms and progression of NF1 vary widely among people who have it, even those in the same family. Because NF1 affects everyone who has it differently, your care team at Rush will customize a treatment plan just for you.
- Children with NF1 often show symptoms at birth or shortly thereafter and almost always by age 10.
- If one parent has NF1, a child has a 50 percent chance of developing it. NF1 can also occur spontaneously because of a gene mutation. Mutations are responsible for 30 to 50 percent of NF1 cases.
Symptoms of neurofibromatosis type 1
If your doctor suspects NF1, he or she will look for other symptoms in addition to café-au-lait spots, including the following:
- Two or more neurofibromas, benign tumors along nerve sheaths that appear as small bumps on or beneath the skin.
- One plexiform neurofibroma, a tumor that involves many nerves and can grow quite large
- Freckles in the armpit or the groin
- Two or more colored, raised spots on the iris of the eye (known as Lisch nodules or iris hamartomas)
- A tumor on the optic nerve (called an optic nerve glioma)
- Abnormal development of the spine (scoliosis), skull or shinbone
- Larger-than-average head size
- Short stature
Tests for NF1 might include the following:
- An eye exam by an ophthalmologist
- Genetic tests to find a change in the gene that causes NF1
- Magnetic resonance imaging (MRI) of tumor sites
- Other tests for complications (see below)
Complications of NF1 might include the following:
- Malignant peripheral nerve sheath tumors (MPNST), which occur when plexiform neurofibromas become cancerous. This happens in three to five percent of cases.
- Abnormal buildup of fluid in the brain (hydrocephalus)
- Headaches and epilepsy
- Cardiovascular complications:
- Attention deficit hyperactivity disorder (ADHD)
- Learning disabilities
Care for NF1 at Rush
Because research has not yet revealed how to stop neurofibromas from growing, treatment for NF1 involves the following:
- Regular medical appointments to monitor your symptoms
- Removal as needed of tumors that cause pain, loss of function or significant cosmetic disfigurement
- Treating other complications of the disease with medication or surgical interventions
- Annual eye exams to check for growths
NF1 is a complex disease that can require many specialists to collaborate on its treatment in order to give you the best possible results. You may receive care from one or more of the following specialists at Rush, depending on your specific symptoms and/or complications:
- Neurologists and neurosurgeons
- Orthopedic surgeons
- Cardiologists and cardiovascular surgeons
- Psychiatrists and psychologists
- Plastic and reconstructive surgeons
- Oncologists at the Rush University Cancer Center
Why choose Rush for NF1 care
- Rush’s neurology and neurosurgery programs are consistently ranked among the best in the nation by U.S. News & World Report.
- Because Rush is an academic medical center with a thriving research program, patients often have the opportunity to participate in clinical trials that evaluate innovative new treatments.