Neurofibromatosis Symptoms

The nature of neurofibromatosis symptoms depends upon the type of the disorder. The disease exists in three different types. So read this article and know about the types and their symptoms.
Neurofibromatosis is a genetic disorder, that causes abnormalities in the working of the nervous system, by disrupting cell growth. This results in the formation of tumors which develop on the nerve tissue that connect the brain and spinal cord to other parts of the body. These tumors can also grow on the large and small nerves in other areas of the body. This condition is commonly detected in childhood or in early adulthood. The only good thing about the condition is, these tumors are non-cancerous in most cases. However, with exception, there are a few cases where these tumors do become cancerous. As mentioned above, the neurofibromatosis symptoms in infants and children vary according to the type of the disease, which would be discussed below.

Neurofibromatosis Types

Types Symptoms
Neurofibromatosis 1 (NF1): This type usually causes the growth of tumors on nerves on or under the skin. In other words, it gives rise to skin abnormalities.
  • If someone has more than 6 of what are known as cafe au lait spots, then he is suffering from this type. These spots commonly occur at birth or during the first year of life. Although these spots are harmless, they are a cosmetic concern for most people.
  • Places such as the groin, underarm, and in areas under the breast, there would be visible small brownish spots. This may be known as freckling.
  • There may appear lesions in the iris, which could be invisible to the naked eye, but can be detected in a medical test. These lesions are known as lisch nodules.
  • If a child has been diagnosed by this disease, with time, he may develop lumps under the skin. These are nothing but non-cancerous tumors growing on the nerves that lie near the skin. These are known as neurofibromas, some of which may be firm and round, while some soft.
  • Bone deformities
  • Problems in learning skills, but mild.
  • Having a larger than normal brain size is also one of the symptoms of neurofibromatosis 1.
  • NF1 patients, occasionally have a short stature.
Neurofibromatosis 2 (NF2): Here, tumors grow on the nerves that serve to communicate signals from the inner ear to the brain. This affects the hearing and the balance of the body.
  • Some people may experience hearing loss, while some may have tinnitus (ringing in the ears)
  • Experiencing unsteadiness while walking is an important symptom of NF2.
  • In some cases, there might also develop weakness in the limbs, and even cataracts. This is due to the fact that the tumors may grow in other nerves of the body.
Schwannomatosis: This type is a rare condition, and has recently been studied. In this condition, the tumors might grow on nerves in multiple parts of the body but not on the ones associated with hearing and balance. People in their 20s and 30s seem to be more vulnerable to this condition.
  • The main symptom of this condition is the occurrence of chronic pain that tends to radiate in different parts of the body.
Segmental neurofibromatosis: A variant of neurofibromatosis.
  • Symptoms include lesions which are localized to one segment of the body; commonly the back and chin.

About the treatment, it involves keeping a close monitor on the symptoms caused by neurofibromatosis and starting the treatment at the earliest. According to experts, brighter outcome depends on how soon was the disease diagnosed and received treatment. The condition, although a challenging one, can be dealt with diligent effort in keeping up with the treatment methods and taking utmost care of the sufferer. It is a fact that most children, who once suffered this condition, have grown up to live healthily, with no or only a few complications. The main defense to beat the disease is an early treatment and regular follow-up with the doctor.
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Published: 12/24/2010
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