Neurofibromatosis (or NF) can be broken down into three different diseases. All together they grow tumors on the nerve tissue. These tumors are often benign but some cause extreme pain due to the compression it does to nerves and other tissue. The above picture demonstrates the severity of some cases of NF. In most cases, NF symptoms stay the same but in NF2 and Schwannomatosis (rarer cases of Neurofibromatosis) the symptoms are progressive. People with NF tend to live to normal life expectancy. Some also have tumors on nerves in eyes. These tumors are red-orange on can be spotted by the naked eye. This disease is genetic and can be passed down from either parent. This disease is autosomal (not sex-linked). This means a child born to a mother with NF has a 50% chance of having it also. NF was discovered in 1882 by a German Pathologist named Friedrich Daniel von Recklinghausen. Because this was discovered in 1882, there isn't much information on von Rechklinghausen.
Symptoms of NF:
Multiple Skin Lesions
Curvature of Spine
Enlargement of Bones
Hearing Loss
Learning Disability
NF can be diagnosed through buttonholing (distinguishes between NF tumors and fatty tumors). An ophthalmologist (eye doctor) can also use a slit-lamp microscope to see lesions on the iris. An MRI scan can also be used to spot the tumors. Treatments include a biopsy, surgery, radiation, and chemotherapy, but there is no cure. Because this disease is inherited, there is no way it can be prevented. Organisations like the "National Institute of Neurological Disorders and Stroke" are running clinical trials on drugs to see if there is a medicine to keep down the tumor flare ups.
Work cited:
http://www.disabled-world.com/artman/publish/neurofibromatosis.shtml
http://www.britannica.com/EBchecked/topic/493592/Friedrich-Daniel-von-Recklinghausen
http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm
http://www.medstudents.com.br/neuro/neuro7.htm
http://www.wrongdiagnosis.com/medical/von_recklinghausen_s_disease.htm
http://www.neurologychannel.com/neurofibromatosis/symptoms.shtml
http://www.humanillnesses.com/original/Men-Os/Neurofibromatosis.html
http://orthoinfo.aaos.org/topic.cfm?topic=A00050
No comments:
Post a Comment