Neurofibromas: Definition, Causes, Symptoms, Diagnosis and Treatment

They are tumors that grow in the connective tissue of the nerves, these tumors are generally benign (not cancerous).

If a person has numerous neurofibromas, the condition is called neurofibromatosis .

Neurofibromas are benign tumors located on the peripheral nerves. They arise from the cells that form and support the nerve envelope.

These tumors infiltrate the nerve and disrupt the individual fiber sheaths.

They can occur as a single tumor or in groups, when multiple tumors appear, they are associated with neurofibromatosis, a genetic disorder also known as von Recklinghausen’s disease.

Spinal neurofibromas are rare and comprise approximately three percent of all spinal tumors .

Neurofibromatosis is a neurocutaneous syndrome that can affect many parts of the body, including the brain , spinal cord, nerves, skin, and other body systems.

Neurofibromatosis can cause the growth of non-cancerous (benign) tumors that involve the nerves and the brain.

Neurofibromatosis can range from mild to severe, and some children live almost unaffected by their neurofibromatosis, while others may be severely disabled.

Causes of neurofibroma

Neurofibromatosis is often inherited, it is transmitted by relatives through our genes.

But about 50% of people newly diagnosed with the disorder have no family history of the disease, which can arise spontaneously through a mutation (change) in genes.

Once this change has taken place, the mutant gene can be passed on to future generations.

Symptoms

They are usually slow-growing painless masses and may not cause symptoms. But it has symptoms associated with neurofibromatosis.

The most severe symptoms and the most obvious results of these tumors are disfigurement and orthopedic problems.

These problems include scoliosis and nonunions, there may also be some delay in sexual maturation.

There are many more learning disabilities and vision problems that can develop throughout your life.

Neurofibromatosis 2 has symptoms that generally develop much later in life compared to neurofibromatosis 1.

Most people are diagnosed with neurofibromatosis 2 between the ages of 14 and 20.

There are fewer symptoms for this type than neurofibromatosis 1 and there are fewer brown spots on the body.

This disorder is characterized by the frequency of tumors found in the spinal cord and brain.

These tumors often cause hearing loss or a ringing sound in the ears.

In younger children or those with mild cases, neurofibromatosis 1 can be found early when café-au-lait spots (birthmarks) appear on the skin.

Many people without neurofibromatosis 1 have café au lait spots.

But if a young child has more than five of these birthmarks, at least ½ inch in diameter, a doctor will look for other clues that may indicate neurofibromatosis 1.

Other signs of neurofibromatosis 1 include freckles in the armpits and groin areas, as well as neurofibromas (tumors on, under, or hanging from the skin) and Lisch nodules, small non-cancerous bumps on the iris (the colored part of the eye) .

Although Lisch nodes help identify a person with neurofibromatosis 1, they do not cause any vision problems.

Neurofibromas can be in various parts of the body, often just before puberty begins.

People with neurofibromatosis 1 may also have bone problems, such as thinning or overgrowth of the bones in the arms or lower leg, or scoliosis, an abnormal curvature of the spine.

Neurofibromatosis 2 is usually not diagnosed until a child is older.

Hearing loss in the late teens and early 20s is often the first symptom of the disorder and is caused by tumors that grow on the vestibular nerves.

Other symptoms of neurofibromatosis 2 include continuous ringing in the ears, headache, facial pain or weakness, and feeling unstable or unbalanced.

Other tumors can involve the lining of the brain (meningiomas) and the spinal cord (ependymomas).

Young children can also have problems with the retina at the back of the eye.

Diagnosis

To make the diagnosis, the doctor will perform a series of tests and exams.

For neurofibromatosis 1, a doctor will discuss your medical history and perform a physical exam of your skin to look for “café au lait” spots and freckles.

The x-rays will help the doctor to detect abnormalities in the bone structure.

Doctors generally order tests to confirm small tumors on the nerves in both neurofibromatosis 1 and neurofibromatosis 2.

Magnetic resonance imaging can reveal tumors in various parts of the body.

Blood tests may also be done to detect the neurofibromatosis gene.

When neurofibromatosis 2 is suspected, the doctor may recommend hearing tests to evaluate a person’s hearing and the function of the nerve that runs from the ear to the brain.

Treatment of neurofibromas

Treatments focus on controlling symptoms.

There is no standard treatment and many symptoms, such as café au lait spots, do not need treatment.

When treatment is necessary, options may include:

  • Surgery to remove problem tumors or tumors.
  • Treatment that includes chemotherapy or radiation if a tumor has become malignant or cancerous.
  • Surgery for bone problems, such as scoliosis .
  • Therapy (including physical therapy, counseling, or support groups)
  • Cataract removal surgery.
  • Aggressive treatment of associated pain.