Neurofibromatosis

A detailed Summary of 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

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.

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) bilate

Some common words found in the essay are:
, Development Conference, NF NF, Joseph Merrick, NF1 NF2, autosomal dominant, Journal Medicine, Aubrey MD, nf 1, brown spots, Lucy MB, Neurofibromatosis Type, Peter Ford, norton co york, common type, treatment disorder, effects chromosome, diagnosed nf2, type nf, disorder affecting, able clone gene, common type nf, ww norton co, probability born,

Approximate Word count = 1088
Approximate Pages = 4 (250 words per page double spaced)

Category: Science