What is Neurofibromatosis
Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body’s nerves or on or underneath the skin. NF is a rare disease with fewer than 200,000 US cases per year. Treatment can help, but this condition can’t be cured. This disease requires a medical diagnosis with lab tests and/or imaging. It is chronic lasting from years to a lifetime. Luckily, neurofibromatosis is usually noncancerous. There are three types of this condition. Type 1 usually appears in childhood, while Types 2 and 3 appear in early adulthood. Type 1 can cause bone deformities, learning disabilities, and high blood pressure. Type 2 can cause hearing loss, vision loss, and difficulty with balance. Type 3 can cause chronic pain throughout the body. Some cases may not require treatment other than careful observation. Other cases may require chemotherapy, radiation therapy, or surgery. Consult a doctor for medical advice
Symptoms
- Type 1 can cause bone deformities, learning disabilities, and high blood pressure
- Type 2 can cause hearing loss, vision loss, and difficulty with balance
- Type 3 can cause chronic pain throughout the body
- Attention-deficit/hyperactivity disorder
- Bone deformities
- Developmental: learning disability or short stature
- Enlarged head
- Pain areas: in the face
- Pain feeling: pins and needles
- Ringing in the ears
- Scoliosis
- Seizures
- Sensory: hearing loss
- Skin: brown spot on skin, armpit freckles, or lumps
- Vision disorder
- Whole body: balance disorder or high blood pressure
Treatment
- Some cases may not require treatment other than careful observation
- Chemotherapy
- Cochlear implant
- Devices
- Genetic counseling
- Laminectomy
- Medical geneticist
- Neurologist
- Neurosurgeon
- Ophthalmologist
- Primary care provider (PCP)
- Radiation therapy
- Spinal fusion
- Surgery
- Surgery
- Therapies