Neurofibromatosis is a congenital condition where the major issue is tumors that form around nerves inside the body. These tumors, actually called neurofibromas, can be around major nerves within the spinal cord, superior branches or around peripheral nerves anywhere in the body. There are three types of neurofibromatosis, two of them quite rare, that can develop. While not all patients with neurofibromatosis actually develop problematic tumors, many who do encounter malignant tumors that pose other serious problems.
The Three Types of Neurofibromatosis
All three types of neurofibromatosis are caused by the suppression of genes that prevent tumors from developing in our bodies. This allows body cells to grow faster and in large groupings, forming tumors in various locations.
NF1 is the designation for the most common type of neurofibromatosis. It can present symptoms that include:
- Cafe-au-lait macules, or darkened areas of spotted skin pigmentation. They may be present at birth or develop during adolescence. This is not always a symptom of neurofibromatosis, and it is harmless. Having six or more spots in a group is usually a symptom of NF1.
- Other groupings of freckles in the underarm or groin, not similar to cafe-au-lait spots. These are also harmless.
- Neurofibromas are benign tumors that form on the nerves. They feel like small lumps underneath the skin, although they can occur deeper within the body where they are completely unnoticed. These tumors can exert pressure on nerves, causing numbness, tingling and even pain. Depending on the location of these tumors, they can affect vision, hearing or other motor functions. They also pose a risk of becoming malignant.
- Other signs that have been connected to NF1 include:
- Small stature
- Bone abnormalities
- Early or late onset of puberty
- Larger head circumference
- High blood pressure
- Learning disabilities
Neurofibromatosis type 2 is typically seen later than NF1, usually during puberty or the early adult years. Rarer than NF1, NF2 symptoms include:
- Cafe-au-lait spots, but fewer than people with NF1.
- Benign tumors called vestibular schwannomas that form around the auditory nerves of one or both sides, impacting hearing, balance and possibly causing hearing loss.
- Vestibular schwannomas may also form around other nerves, resulting in muscle weakness, pain, numbness, headaches, seizures, facial drooping, difficulty swallowing, problems with vision and impaired speech.
This is the rarest type of neurofibromatosis and it causes similar tumors, called schwannomas, as NF2. However, with this type, the tumors form on the brain, along the spinal cord and around peripheral nerves, but not the auditory nerves. Onset of symptoms is usually witnessed during early adulthood and can result in serious sensory and functional impairments.
Treatment for neurofibromatosis generally requires management by a team of specialists, due to the many areas that can be affected by the tumors. Surgical removal of tumors can be accomplished, along with some limited repairs to restore function and alleviate symptoms. The team at The Vascular Birthmark Institute can monitor patients who have been diagnosed with neurofibromatosis to help develop the most effective treatment plans and therapies. We also partner with renowned neurologists that specialize in treating this disorder and its symptoms.
Contact The Vascular Birthmark Institute of New York for specialist diagnosis and treatment of neurofibromatosis or other congenital birthmarks.