Neurofibromatosis!!! :(

• What is Neurofibromatosis?

     Neurofibromatosis is a genetic disorder that cause tumors to grow in the nervous system.This disorder causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities.Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis, a type that was once considered to be a variation of NF2.  NF1 is the more common type of the neurofibromatosis.

•  NF1
•  A physician looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old,  may include light brown spots on the ski, two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia.

• NF2
• is less common and is characterized by slow-growing tumors on the eighth cranial nerves. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for eighth nerve tumors, cataracts at an early age or changes in the retina that may affect vision, other nervous system tumors and similar signs and symptoms in a parent, sibling, or child

• Schwannomatosis
• is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve.  The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue.  Some people may develop numbness, tingling, or weakness in the fingers and toes.

History of Neurofibromatosis

     Researchers suggest that Neurofibromatosis (NF) was identified through a painting at the beginning of the second century and later revealed in numerous papers. The fact is that Neurofibromatosis was detailed for the first time by Friedrich Daniel von Recklinghausen in 1882. Since that date, NF was usually called "Disorder of Recklinghausen".NF was essentially ignored by the public in general until the report of the "Disorder of the Elephant Man" through the publication of the book by Ashley Montagu: "The Elephant Man: a study of the human dignity", in 1971.

Montagu's Book was based on the work of the famous British surgeon of 19th century, Frederick Treves, "The Elephant Man and another reminiscences", published in 1923.


Causes of Neurofibromatosis 
     About half of those who are afflicted with neurofibromatosis inherit it. NF1 is an autosomal dominant genetic disorder, which means that in cases in which the gene is inherited, only one gene is needed from one parent in order to pass the disease on to offspring. Thus, a parent who carries the gene has a 50 percent chance of passing it on each time a child is conceived.
     Given that half of those who develop neurofibromatosis inherit the condition, it stands to reason that the other half of the population affected by the disease has no family history of the disease. In these cases, spontaneous genetic mutation is the cause. Abnormal differentiation and migration of neural cells can occur during the development of the embryo, which takes place from conception until about the eighth week of a pregnancy. Parents who have a child with neurofibromatosis but don't have the condition themselves have a very small chance of having another child with the disease.  

     The NF1 gene is located on chromosome 17, and NF2 has been traced to chromosome 22. 

How is Neurofibromatosis Diagnosed?

     The diagnosis will usually be made based on the unique symptoms and signs of neurofibromatosis.

Signs include:

• Colored, raised spots (Lisch nodules) on the colored part (iris) of the eye
• Fracture of the long bones of the leg in early childhood
• Freckling in the armpits, groin, or underneath the breast in women
• Large tumors under the skin, which can affect the appearance and put pressure on nearby nerves or organs
• Many soft tumors on the skin or deeper in the body
• Mild cognitive impairment, Attention Deficit Hyperactivity Disorder (ADHD), and  learning disorders
• Soft nodules under the skin

Tests may include:

• Eye exam by an ophthalmologist familiar with NF1
• Genetic tests to find a change in the neurofibromin gene
• MRI of the affected site

Treatments or Cures for Neurofibromatosis

• NF1
• Surgery is often recommended to remove the tumors.  Some NF1 tumors may become cancerous, and treatment may include surgery, radiation, or chemotherapy. Surgery, radiation, and chemotherapy also may be used to control or reduce the size of optic nerve tumors when vision is threatened.   
• NF2
•  MRI, can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option but may result in hearing loss. Surgery also can correct cataracts and retinal abnormalities.
• Schwannomatosis
• There is no currently accepted medical treatment or drug for schwanomatosis, but surgical management is often effective.  Pain usually subsides when tumors are removed completely.  Genetic testing is available for families with documented cases of NF1 and NF2 but such testing for schwannomatosis currently does not exist.

How is Neurofibromatosis Prevented? 

     New cases of inherited NF can be prevented with careful genetic counseling.

Research on Neurofibromatosis

        The Interinstitute Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. Using specimens from some of the families, scientists have isolated and sequenced the NF2 gene and have described two different patterns of clinical features in NF2 patients. Investigators are continuing to study these patterns to see if they correspond to specific types of gene mutations.

Foundations 

•      Neurofibromatosis, Inc. (NF Inc.)
• Non-profit organization made up of independent state and regional chapters that provide support and services to NF families. Provides patient/family and public education, supports research, publishes a newsletter, and sponsors meetings and chapters nationwide.
• Neurofibromatosis, Inc. (NF Inc.)
  P.O. Box 66884
  Chicago,  IL  60666
  Tel: 630-627-1115 800-942-6825
  EMail: nfinfo@nfinc.org
  http://www.nfinc.org

Picture time

 

Bibliography 

• Neurinoma. Web. 23 Mar. 2011. <http://www.neurinoma.com.br/English/neufibro.html>.
• "Neurofibromatosis Information Page." National Institute of Neurological Disorders and Stroke (NINDS). Web. 23 Mar. 2011. <http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm>.
• "Neurofibromatosis-1 - Symptoms, Diagnosis, Treatment of Neurofibromatosis-1 - NY Times Health Information." Health News - The New York Times. Web. 23 Mar. 2011. <http://health.nytimes.com/health/guides/disease/neurofibromatosis-1/overview.html>.
• Pingleton, Christine. "Causes of Neurofibroma | EHow.com." EHow | How To Do Just About Everything! | How To Videos & Articles | EHow.com. Web. 23 Mar. 2011. <http://www.ehow.com/about_5075480_causes-neurofibroma.html>.