FREE ESSAY ON NEUROFIBROMATOSIS

NEUROFIBROMATOSIS

Neurofibromatosis is a disorder affecting the chromosomes of the human body. It is a
hereditary disorder affecting the nervous system. The term neurofibromatosis actually
refers to two different genetic diseases. The most common type is NF 1, and the less
common type is NF 2. Both disorders are transmitted in an autosomal dominant fashion. An
autosomal dominant disease is a disorder caused by the presence of a single autosomal
dominant gene; an abnormal factor located on any chromosome other than the sex
chromosome. They are both characterized by occurrences in multiple neurofibromas. 
The main symptom of these disorders is tumors that form on the ends of nerves throughout
the body. NF 1 is most commonly diagnosed during childhood. The most outstanding symptoms
seem to occur during adolescence and pregnancy. Although the symptoms of NF vary and are
unpredictable another common sign is brown spots on the skin. The markings on the body
usually measure .5cm in diameter for younger children and can reach 1.5cm by adulthood.
They can also decipher NF by observing markings or freckling on the iris. 
The most common tumors occurring with NF 1 are located under the skin. They have even
been found in deeper areas of the body. The amount or severity of pain from these tumors
can range from minimal pain sparsely to intense pain constantly. One of the most severe
results and the most apparent results of these tumors is disfigurement and orthopedic
problems. These problems include scoliosis and pseudoarthrisis. There also may be some
delaying in sexual maturation. There are many more learning disabilities and optic
problems that may develop throughout their life. 
Neurofibromatosis 2 has symptoms that usually develop much later in life compared to NF1.
Most people are diagnosed with NF2 between the ages of 14 and 20. There are fewer
symptoms for this type than NF1. There are fewer brown spots on the body. This disorder
is noted for the frequency of tumors found on the spinal cord and brain. These tumors
more often than not cause loss of hearing or a ringing sounds to occur in the ears. 
The probability of being effected by neurofibromatosis is very surprising. It is actually
one of the most common genetic disorders in the United States. The probability of being
born with NF1 is 1 in 4000. The probability of being born with NF2 is 1 in 50000. This
disorder effects all ethnic races and sexes. Because NF is an autosomal dominant genetic
condition you can't get it from other people. Statistics show that only about 50% of
those affected with NF have family history of NF. The only way to get NF is from your
parents. The parents can only give NF to their offspring if they are also plagued by this
disorder. 
In the past few years there have been huge advancements in treatment for
neurofibromatosis. They still haven't found a cure or effective treatment for this
disorder. They have deciphered that NF1 effects chromosome 17 and that Nf2 effects
chromosome 22. The problem with finding a cure for this disorder is that about ? of all
cases occur due to new mutations of the genes. In 1990 scientists were able to clone the
gene of NF1 and then produce its protein, neurofibromin. Once again in 1993 they were
able to clone the gene of NF2 and create its protein, Merlin/ schwannomin. One of the
only treatments for this disorder is removal of the tumors which is done like the removal
of any other tumor. New advancements are made everyday toward finding the secret behind
this disorder. Taking this fact into consideration, doctors must always be kept up to
date concerning new procedures and treatment of this disorder. 
Even though there have been huge advances in understanding this disorder there is no
medical therapy available. The diagnosis of NF1 and NF2 are still largely based on
clinical criteria. The diagnosis for NF1 was established by the NIH Consensus Development
Conference. They stated specifically that 2 or more of the following must be present: (1)
6 or more Cafe-au-lait macules (brown spots) are present, (2) 2 or more neurofibromas
(tumors), (3) freckling in the axillary or inguinal regions, (4) an optic pathway tumor,
(5) 2 or more Lisch nodules, (6) a distinctive, osseous lesion, such as sphenoid wing
dysplasia or thinning of the cortex of the long bones, and (7) a first-degree relative
(parent, sibling, or offspring) with NF1 by the above criteria. To be diagnosed with NF2
the following must be included: (1) bilateral eight-nerve masses visualized by MR imaging
or (2) a first degree relative with NF2 and either inilateral eigth-nerve masses or two
of the following: neurofibroma, meninggioma, glioma, schwannoma, or jeuvanile posterior
subcapsular lenticular opacity.
Neurofibromatosis used to be just another disease that only doctors knew about. One man
and his life changed this forever, the Elephant Man. This disease became most well known
after the broadway production of his life. The elephant man spent most of his known life
as a profecional circus friek. He first appeared in1884 and his real name was Joseph
Merrick. Because of his willingness to let people see him, and the play that was created
around his life, the amount of reasearch done to find everything possible about this
disease was certainly increased. He had numerous tumors an the right side of his body and
face. His right hand was 3 to 4 times larger that the average man. His life had certainly
spread the knowlage and increased the knowledge we have today of Neurofibromatosis.
Bibliography
Cook, Robert. 1994. The Gene Wars: Science, Politics, and Human Genome. W.W. Norton Co.,
New York. 
Howell, Michael and Peter Ford. 1980. The True History of the Elephant Man. Penguin
Books, New York.
Lewis, Ricki. 1994. Human Genetics, Concepts and Applications. Wm. C. Brown Publishers,
Dubuque.
Lyon, Jeff. 1995. Altered Fates. W.W. Norton Co., New York
Milunsky, Aubrey MD. 1992. Heredity and Your Family's Health. John Hopkins University
Press, Baltimore.
Side, Lucy MB. 1997. "Homozygous Inactivation of the NF1 Gene in Neurofibromatosis Type 1
and Myeloid Disorders." The New England Journal of Medicine. 336, 1713-19.