Neurofibromatosis is a genetic disease that causes neurofibromas to form on or under the skin. Neurofibromas are tumors that cause lumps under the skin or on the skin. Those suffering from neurofibromatosis may have many of these lumps covering large areas of their body such as the back or face. The tumors can also grow to be large in size with documented cases of tumors up to 200 pounds.
Neurofibromatosis is often incorrectly thought to be the same as “elephant man” disease. If a parent has neurofibromatosis their children will have a 50/50 chance of also contracting the disease. Neurofibromatosis is also known as NF, neurofibromatosis type 1, and von Recklinghausen disease. It affects males and females equally.
Neurofibromatosis Signs & Symptoms
In addition to bumps and tumors patients may see the formation of “café au lait” spots, discolorations of the skin that are similar to birth marks. Some people have freckling on their groin, armpits or iris. In younger patients neurofibromatosis can lead to the early onset of puberty. It can also lead to complications due to the tumors pushing on other nerves or body parts. Higher incidents of leukemia and epilepsy are seen in patients with neurofibromatosis. Many develop learning disabilities and some can even suffer from seizures.
If there is a family history of neurofibromatosis a fetus can be tested for the disease. If there is no family history a diagnosis may only become evident once neurofibroma begin to form.
Unfortunately there is no cure for neurofibromatosis. Treatment depends on the type, location and severity of the tumors. Also, the complications that may arise as a result of the tumors need to be treated. Pain medication is used to keep people as comfortable as possible. Where possible tumors are surgically removed. This depends on whether they can be safely removed without harming surrounding healthy tissue. For those that become cancerous, radiation and chemotherapy are used.
The prognosis for people with neurofibromatosis depends on the type and severity of their disease. Some types are progressive and the symptoms will get worse over time. Other types are very mild and the patient can go their entire life without even being diagnosed. Pain can be managed with medication, but people suffering from neurofibromatosis often suffer socially and emotionally as a result of the disease. If you have any of these issues, you may want to seek assistance in our emotional support directory.