Neurofibromatosis (NF) – types, symptoms & causes

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Neurofibromatosis

This is a genetic disorder which is causing tumors to form on the nerve tissue. These tumors can develop anywhere in your nervous system, including nerves, spinal cord and brain. Usually, the neurofibromatosis is diagnosed in the childhood or early adulthood. Usually, these tumors are noncancerous (also called benign), but in some cases they become cancerous (also called malignant). Often, the symptoms of neurofibromatosis are mild.

Also, there are some cases when neurofibromatosis could lead to complications, such as severe pain, loss of vision, heart and blood vessel (cardiovascular) problems, learning impairment and hearing loss. Treatments for neurofibromatosis aim to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes tumors that press on a nerve or large tumors, then surgery can help to ease symptoms. Other people can benefit from medications or stereotactic radiosurgery to control pain.

Contents

Types

Neurofibromatosis

There are three types of neurofibromatosis – neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis. Each type has different signs and symptoms.

Symptoms

Below are given signs and symptoms for each type of neurofibromatosis

Neurofibromatosis 1: This type usually appears in childhood. Signs of it are evident at birth or shortly afterward and almost always by age 10. The signs and symptoms of this type are often mild to moderate but they can vary in severity. Here are some signs and symptoms:

Short stature: Those children who have NF1 are often below the average height.

Larger than average head size: Those children who have NF1 have a larger than average head size which is caused by the increased brain volume.

Learning disabilities: It is common for children with NF1 to have impaired thinking skills, but usually they are mild. In many cases, they have problems with learning, such as problems with mathematics or reading. Also, ADHD is common.

Tumor on the optic nerve (also called optic giloma): This type of tumor usually appear by age 3 and in rare cases it can appear in late childhood and adolescence. It never happens in adults.

Bone deformities: The abnormal bone growth and a deficiency in the bone mineral density can lead to bone deformities, such as bowed lower leg and a curved spine (scoliosis).

Soft bumps on or under the skin (also called neurofibromas): This is a benign tumor which usually develops in or under the skin but also it can grow inside of the body. In some cases, the growth can involve multiple nerves.

Tiny bumps on the iris of your eyes: These nodules are known as Lisch nodules which cannot be easily seen and they do not affect your vision.

Freckling in the armpits or groin area: This usually happens by ages 3 – 5.

Flat and light brown spots on the skin: These spots are known as cafe au lait spots. They are harmless and are common in many people. If you have more than 6 of these spots, then this is a strong indication of having NF1.

Neurofibromatosis 2: This type is less common than NF1. The signs and symptoms of NF2 usually appear in the late teen and early adult years. They can vary in severity.

Here are signs and symptoms of NF2

  • Headaches
  • Poor balance
  • Ringing in the ears
  • Gradual hearing loss

There are some cases when NF2 can lead to growth of schwannomas in other nerves of the body, including peripheral, visual, spinal and cranial nerves. Here are signs and symptoms of these schwannomas:

  • Vision problems or the development of cataracts
  • Facial drop
  • Balance difficulties
  • Pain
  • Numbness and weakness in the arms or legs

Schwannomatosis: This is a rare type of neurofibromatosis and usually it is affecting people after the age of 20. This type causes chronic pain and it can happen anywhere in the body. Also, there can be other symptoms, such as:

  • Loss of muscle
  • Weakness or numbness in many parts of your body

Causes

The neurofibromatosis is caused by genetic defects (also known as mutations) which are either passed on by a parent or spontaneously at conception.

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