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Neurofibromatosis

Neurofibromatosis (NF) refers to a number of inherited conditions that are clinically and genetically distinct and carry a high risk of tumor formation, particularly in the brain. (Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.)

The focal point more so should be the Neurofibromatoses as a group of three genetically distinct disorders causing tumor growth in the central nervous system. Tumors begin in the supporting cells that make up the nerve and the myelin sheath (the thin membrane that envelops and protects the nerves), rather than the actual info transmitting cells. The type of developing tumor depends on the type of supporting cells involved.”

Neurofibromatosis_(NF1) is a neurocutaneous disorder involving multiple organs including the skin, brain, eyes and bones. Patients are at an increased risk of cerebral, cerebellar and brain stem astrocytomas. Plus they’re at an increased risk for Leukemia. It results from a mutation in the neurofibromin[1] gene on chromosome 17. Approxiately half of the cases are sporadic. Auxillary or inguinal freckling are symptoms of NF1.

Neurofibromatosis_(NF2) is a rare genetic disorder characterized by noncancerous tumors of the sound impulse transmitting nerves via the inner ears to the brain. It results from mutations on the merlin gene of the chromosome 22. Bilateral vestibular schwannomas and Edendymomas both occur more frequently in NF2 than NF1.

Schwannomatosis, in which painful schwannoma (homogeneous tumors, consisting only of schwann cells.) They’re always on the outside of the nerve. Development occurs on the cranial, spinal and peripheral nerves.

Signs & Symptoms

The symptoms of Neirofibromatosis type 1 are six or more light brown spots an the skin that can be measured by 5 to 15 millimeters in diameter, two or more neurofibromas, freckling in the armpit and groin, two or more growths on the eye, a tumor on the optic nerve and abnormal development of the spine, temple bone of the skull, or the tibia.

The symptoms of Neurofibromatosis type 2 are bilateral vestibular schwannomas, gloomy, meningioma, schwannomas, and juvenile posterior sub capsular/lenticular opacity.

Schwannomatosis symptoms are multiple schwannomas all over the body except the vestibular nerve. Dominant symptom(s) are pain increased as the tumor enlargens itself, compresses nerves or pinches/presses on adjacent tissue(s). Other possible symptom(s) are neurological symptoms like numbness, tingling or fingers/toes weakened.

Pathophysiology

Neurofibromatosis type 1 has a high mutation rate and is a single gene disorder located on chromosome 17. The protein product neurfibromin consists of 2818 amino acids and includes a domain with guanosine triphosphate which has an activating function. Neurofibromatosis GAP regulates conversion of RAS-guanosine triphosphate to RAS-guano nine diphosphate. NF1 alleles in Schwann lose their function as a tumor suppressor gene while nF2 alleles account for Merlin or Schwannomin/cytoskeleton protein.

Treatments

Only the symptoms can be treated because there isn't a cure for the disorder. Surgery involves cutting or removing the tumors but this doesn't guarentee remission. Hearing and vision problems can be corrected through repairing surgeries and radiation therapy. Scoliosis treatment is merely the doctor recommendation of surgery or wearing a back brace. Surgery is the recommended treatment to remove problematic tumors. Radiation or chemotherapy is the recommended treatment to slow down the growth of the optic nerve gloom as when the vision has been treated. Neurofibromatosis type 2 can be managed at a specialty clinic where the patient can be monitored,creceive routine screenings, and annual follow-up evaluations. The doctors at the specialty clinic will determine when surgery can be performed to remove tumors and to preserve hearing. *Note: During surgery, there's a chance for complications that may cause partial/permanent deafness. This can be corrected using brainstem implants for patients whose auditory nerve cells are removed. After implant surgery, individuals can hear transmissions of sound signals from the brain directly instead of depending on the auditory nerve signals.

Diagnosis COLLAPSE View Original Post Parent Post NF1 Digonoised:

Six or more café au lait spots that are 1.5 cm or larger in post-pubertal individuals or 0.5 cm or larger in pre-pubertal individuals Two or more neurofibromas (tumor that develops from the cells and tissues that cover nerves) of any type or one or more plexiform neurofibroma (nerve that has become thick and misshapen due to the abnormal growth of cells and tissues that cover the nerve) Freckling in the armpit or groin Optic glioma (tumor of the optic pathway) Two or more Lisch nodules A distinctive bony lesion, dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex A first-degree relative with NF1 Suggestions on MRI scan, X-rays and CT scan to get a better identifier to the disorder plus gentic testing along with the symptoms mentioned earlier.

NF2 Digonoiesed: Family history of NF2 (first degree family relative) plus unilateral (on one side) vestibular schwannomas or any two of the following health conditions: Glioma (cancer of the brain that begins in glial cells, which are those that surround and support nerve cells) Meningioma (tumor that occurs in the meninges, the membranes that cover and protect the brain and spinal cord) Any neurofibromas Schwannoma Juvenile cataracts

Source Citing and hyperlink:

NF2 gene. (n.d.). Retrieved November 4, 2014. http://ghr.nlm.nih.gov/gene/NF2

Neurofibromatosis Fact Sheet. (n.d.). Retrieved November 4, 2014. http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm

Neurofibromatosis. (n.d.). Retrieved November 4, 2014. http://diseasespictures.com/neurofibromatosis/

Neurofibromatosis type 1: Persisting misidentification of the "elephant man" disease. (n.d.). Retrieved November 4, 2014. Webpage:  http://www.ncbi.nlm.nih.gov/pubmed/21209351

http://books.google.com/books?id=tGRrF62TJcoC&pg=PT647&lpg=PT647&dq=neurofibromatosis+type+1+and+2+comprehensive+reviews&source=bl&ots=JHGyCODjnb&sig=kfFR7N1E51aA4-oPhLu8ROtqxkE&hl=en&sa=X&ei=ET1ZVKufCNSAygSTuoFw&ved=0CE8Q6AEwBw#v=onepage&q=neurofibromatosis%20type%201%20and%202%20comprehensive%20reviews&f=falseA quick peek is provided at this webpage below. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.Comprehensive review in clinical neurology: A multiple choice question book for the wards and boardsChing, E., & Chahine, L. (2011). [1] Neurofibromin is a tumor suppressor protein that normally activates a GTPase that inhibits ras, a proto-oncogene involved in cell proliferation.More than 100 mutations in the NF1 gene have been identified, but no specified genotype-phenotype correlations occur.

Stats

NF1:

Most common neurofibromatosis. 1 in 3,000 to 4,000 individuals in the U.S. 30-50% of new cases result from spontaneous genetic mutation of unknown cause. An estimated 3-5% of tumors may become cancerous, needing aggressive treatment. Another name for these tumors are Malignant Peripheral Nerve Sheath Tumors.

NF2:

1 in 25,000 people are affected. Approximately 50% of affected people inherit the disorder while on the other hand the cause is a spontaneous genetic mutation of unknown causes.

Schwannomatosis:

About 1/3 of individuals with Schwannomatosis have tumors limited to a single part of the body, i.e. (arm, leg or a spine segment.) Some develop many while others develop a few schwannomas. Schwannomas are mostly benign and less than 1% become malignant, degenerating into cancer called neurofibrosarcoma. Malignant schwannoma is a form of cancer of the connective tissue surrounding nerves.

Research sources and links

NF2 gene. (n.d.). Retrieved November 4, 2014. http://ghr.nlm.nih.gov/gene/NF2 http://www.webmd.com/pain-management/neurofibromatosis?page=2#2