Neurofibromatosis is a genetic disorder that is classified into three types. The symptoms vary, depending on the type. The following article provides information on the symptoms of this medical condition.
Neurofibromatosis is a genetic disorder of nervous system that causes abnormalities in the growth and development of nerve cells. It leads to the formation of tumors on the nerve tissue that connects the brain and spinal cord to other parts of the body. It is commonly detected in childhood or in early adulthood. In most cases, the tumors are non-cancerous. However, there are a few cases where these tumors may become cancerous, which in turn may affect the brain, spinal cord, nerves, and the skin. This condition is classified into NF1, NF2, and schwannomatosis.
Types of Neurofibromatosis
NF1
Also known as von Recklinghausen NF or peripheral NF, NF1 usually causes growth of tumors on nerves or under the skin. In other words, it gives rise to skin abnormalities.
Symptoms:
- Presence of 6 or more, light brown colored patches (café au lait spots), which commonly occur at birth or develop during the first year of life. Although, these spots are harmless, they are a cosmetic concern for many.
- Visible small brownish spots called freckling in places such as the groin, underarm, and in areas under the breast.
- Presence of lesions known as Lisch nodules, in the iris, which could be invisible to naked eye, but can be detected in a medical test.
- Development of lumps under the skin, which are caused due to non-cancerous tumors growing on nerves near the skin. These are known as neurofibromas. Some of these might be firm and round, while some might be soft.
- Bone deformities such as twisted spine and bowed legs.
- Larger than normal brain size
- NF1 patients, occasionally have a short stature.
NF2
Also known as bilateral acoustic NF (BAN), in NF2 the tumors grow on the nerves that communicate signals from the inner ear to the brain. This affects the hearing and the balance of the body.
Symptoms:
- Some people may experience hearing loss, while some may have tinnitus (ringing in the ears).
- Unsteadiness while walking
- In some cases, weakness in the limbs, and even cataract can develop. This is due to the fact that the tumors may grow in other nerves of the body.
Schwannomatosis
It is a rare type of recently discovered form, which is genetically and clinically distinct from NF1 and NF2. In this condition, the tumors grow on nerves, in multiple parts of the body. People in the age group 20 – 30 seem to be more prone to this condition.
Symptoms:
- The main symptom of this condition is the occurrence of chronic pain, that radiates to different parts of the body.
- Numbness or tingling in the fingers and toes.
Segmental neurofibromatosis
Symptoms:
- In this condition, the lesions are localized to one segment of the body; commonly the back and chin.
The chances of recovery are better if the condition is diagnosed at the earliest. The condition, although challenging, can be dealt with diligent effort to keep up with the treatment methods and taking utmost care of the patient. In fact, most of the affected children recover, with no or only a few complications. The condition can be treated successfully, if the treatment is administered at the earliest and with regular follow-up with doctor.
Disclaimer: The information provided in this article is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.
