Neurofibromas

Understanding exactly what a neurofibroma is, will help you with seeking the proper treatment if needed. Neurofibromas are tumors that can form on your nerve tissue. Many are benign, but some may become malignant and require further medical treatment.

What are neurofibromas?

Neurofibromas are tumors that can form on your nerve tissue but can occur almost anywhere in the nervous system. Areas that these tumors can be found include the spinal cord, nerves, and brain. Neurofibromas are associated with Neurofibromatosis: a disorder that is often diagnosed during childhood and is a genetic disorder, meaning it can run in the family and be passed down to the next generation. There are two main types of Neurofibromatosis.

Types of neurofibromas

Both of these are passed down genetically, but the more common of the two is NF 2.

Neurofibromatosis 1 (NF1) and Neurofibromatosis 2 (NF2)

NF1 goes by a couple of different names: von Recklinghausen NF and is also known as peripheral NF. With NF1, light brown or tan colored patches of skin appear and neurofibromas are soft, fleshy growths either on the skin or beneath it. Sometimes in persons with NF1, there may also be learning disorders, scoliosis, enlarged bones, and even deformed bones.

NF2 is also known as bilateral acoustic NF or BAN. It is not nearly as common as NF1 but it is more serious. NF2 is often indicated by numerous tumors on the spinal nerves and cranial nerves. One of the first signs of NF2 occurs in the early teens to 20s when tumors on the auditory nerves cause hearing loss.

About 50% of patients that become newly diagnosed with NF may not have a known family history of the disorder at the time. This does happen spontaneously and occurs with the mutation of genes, but once diagnosed it can be passed down to the next generation.

Symptoms of NF1

Some of the symptoms of NF1 can be mild while others can be more severe. Always check with a physician for proper treatment.

  • Light brown or tan spots on the skin also referred to as cafe au lait spots. These spots are normally flat with no texture. If there are six or more of these spots, there is a good chance the individual has NF1. The spots are harmless and often appear at birth or during the first few years.
  • Freckles in the armpits or groin area. The freckles are smaller than cafe au lait spots and often happen by ages 3-5 years old.
  • Small bumps on the colored area of the eye, but they do not affect eyesight or eye health.
  • Soft and fleshy bumps that can either be on or beneath the skin, they can also grow on the inside of the body. These are normally benign (non-cancerous) although they can sometimes be malignant (cancerous).
  • Deformed bones or curvature of the spine.
  • Some learning disabilities can be detected.
  • Larger head than the average person. This is seen in children more than adults.
  • Shorter than average, especially in children.

Not all of these symptoms may occur, but there is a possibility that one or all may become apparent in persons with NF1.

Symptoms of NF2

The symptoms of NF2 may begin to appear in the late teens and early adulthood, and just like with NF1 they can vary on how severe they are. NF2 is the less common of the two types. Many of the symptoms are caused due to slower growing tumors on the nerves that affect balance and sound. Usually benign, there is a possibility of them becoming malignant.

  • Headaches
  • Hearing loss
  • Loss of balance
  • Ringing in the ears

There are times that NF2 causes other nerves in the body to be affected by growths like the cranial and spinal nerves. These symptoms differ but only slightly.

  • Numbness or weakness in the extremities
  • Pain
  • Difficulty with balance
  • Facial drooping or dropping
  • Vision issues such as cataracts

As a general rule, many of the symptoms are non-harmful, but by contacting your physician at the first sign of any of these or other symptoms may help reduce the risk factors.

Complications of NF1 and NF2

Either of these can come with different complications. Be sure to keep an eye out for anything that may seem strange and contact your physician for confirmation, especially with children not diagnosed yet or newly diagnosed with NF1 or NF2.

NF1 complications can include:

  • Neurological problems such as learning disorders.
  • Distress over appearance due to the cafe au lait spots that are on the body.
  • Skeletal problems such as bowed legs or scoliosis or fractures that do not heal properly.
  • Vision problems mostly in children called optic glioma which affects their normal vision.
  • Trouble during times of hormonal changes like pregnancy, puberty, menstrual cycles or menopause as the hormonal changes can cause more neurofibromas to grow.
  • Cardiovascular issues such as high blood pressure.
  • Breathing problems - though rare, neurofibromas can cause pressure to the airway.
  • Cancer - it is estimated that 3 to 5 percent of people with NF1 may get cancerous tumors. Individuals with NF1 are also more prone to certain types of cancer including breast cancer, soft tissue cancer, leukemia, and brain tumors.
  • Adrenal gland tumors that are usually benign and can be surgically removed.

Some of these complications are rare and not everyone that has NF1 will have them. It is still best to check with a medical professional if there are any concerns.

NF2 complications

There are not as many complications with NF2, but you should still keep an eye out for them as well and contact a doctor if questions arise.

  • Total or partial hearing loss
  • Facial nerve damage
  • Vision problems
  • Small but benign skin tumors
  • Numbness or weakness in the arms or legs
  • Multiple brain or spinal tumors that are benign but may require surgery

Treatments for neurofibromas

There is no known cure yet for either NF1 or NF2 or neurofibromas, but there are several treatments that can be administered. Some of the treatments will depend on the severity of the neurofibromas or the disorder that an individual has.

  • Chemotherapy or radiation therapy for those neurofibromas that have become malignant
  • Surgery to remove the tumors
  • Surgery for bone problems such as scoliosis or other bone deformities
  • Group therapy for those affected
  • Cataract removal
  • Pain control

The freckles and cafe au lait spots do not need any sort of medical treatment as they are harmless. Most people that are diagnosed with neurofibromas can live perfectly normal lives without special treatments, but keep in mind that there is no known cure as of yet for any of the inflictions. Children may require treatment more often as their bodies grow and develop, but it all depends on the symptoms that they have as well.

While most can live normal lives, those people affected more severely with the symptoms may require medical treatment including pain control, surgery, and more. Be sure to check with a physician to find out what the best treatments are for any individual situation.