Neurofibromatosis

= Neurofibromatosis =
 * == Discovery ==

Neurofibromatosis (NF for short) is a genetic disorder that causes tumors to form on nerve tissue. The disease has a long history--its oldest cases are recounted in 13th- and 14th-century literature. Although it has existed for many ages, it was first officially described in 1882 by Friedrich Daniel von Recklinghausen, a German pathologist. He reported two cases of NF (type 1), one of which he diagnosed at an autopsy. Von Recklinghausen, as a result of the autopsy, concluded that the external tumors caused by the disease originate from tumors on the nerve tissue and described what we know today as caf e  au lait spots. ||

Buffon’s Girl, Livorno, 1830: An early piece of art depicting neurofibromatosis before von Recklinghausen’s description

Friedrich Daniel von Recklinghausen ||
 * == Symptoms ==

There are three types of neurofibromatosis--NF1, NF2 ( also called bilateral acoustic neurofibromatosis or central neurofibromatosis) , and schwannomatosis (a further stage of NF2)--each of which are accompanied by different symptoms. Symptoms caused by NF1 may include...
 * cafe au lait spots (flat, light brown spots on the skin)
 * freckling in the armpits or groin
 * bumps on the iris of the eye (also called Lisch nodules)
 * soft bumps under the skin (also called neurofibromas)
 * bone deformities
 * a tumor on the optic nerve
 * learning disabilities
 * <span style="color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">abnormally large head size
 * <span style="color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">below-average height

<span style="color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">NF2 symptoms may include… <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">schwannomatosis (or a tumor on the sheath of a nerve called a schwannoma) symptoms may include… <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">The symptoms of all forms of neurofibromatosis usually become apparent in childhood, often before the age of 10. All forms can be fatal if the tumors become cancerous, but most of the time, NF causes benign tumors and symptoms that are not deadly. It is incurable, but it can be treated with a couple different methods:
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">hearing loss over time
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">ringing in the ears
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">poor balance
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">headaches
 * <span style="color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">numbness or weakness in various parts of the body
 * <span style="color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">loss of muscle
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">pain
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">difficulty finding balance
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">facial drop
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">issues with vision or the formation of cataracts
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">surgery: traditional operations in which external tumors are extracted, stereotactic radiosurgery in which internal tumors are treated with radiation, and auditory brainstem implants or cochlear implants that can improve hearing loss specifically as a result of NF2
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">pain medications to relieve pain specifically as a result of schwannomatosis
 * <span style="background-color: #ffffff; color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">malignant tumors can also be treated with cancer treatments like chemotherapy and other types of radiation therapy || <span style="color: #3d85c6; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">[[image:https://lh4.googleusercontent.com/O0M2lsI9FmVs8lZUrN1Qo6Odlia3L7y9qu83UQZHDpoYjnm5paizEv0N5h5x-AZNb2J8VBswEaWXqyhaPNAWKXBxX_7A3e9b6gE3IWyvXaYFGN8B5V0jH-gskbu4SGTho9Ly7WJh width="299" height="171" align="center"]]

<span style="color: #3d85c6; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">A woman with NF1, the most recognizable form of neurofibromatosis; an example of a person with abundant neurofibromas

<span style="color: #3d85c6; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">Cafe au lait spots

<span style="color: #3d85c6; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">Lisch nodules

<span style="color: #3d85c6; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">Stereotactic radiosurgery

<span style="color: #3d85c6; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">NF2; the white spots are tumors that formed as a result of the disease on the inner ear--schwannomatosis is essentially a more advanced form of NF2 ||
 * == Inheritance Pattern ==

<span style="color: #ff00ff; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">NF is an autosomal dominant disorder because the gene for NF is located on one of the 22 pairs of autosomes--chromosomes that are not sex chromosomes. The gene for type 1 is located on 17, while the gene for type 2 is on 22. <span style="background-color: #ffffff; color: #ff00ff; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">The NF1 gene provides instructions for making a protein called neurofibromin, which acts as a tumor suppressant. NF1 is caused by an autosomal chromosomal mutation of chromosome 17--specifically the deletion of it, as is NF2 on chromosome 22. This causes tumors to grow rapidly and out of control on nerve tissue. ||

<span style="color: #ff00ff; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">The location of the NF1 gene on autosome 17

<span style="color: #ff00ff; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">The location of the NF2 gene on autosome 22 ||
 * == Environmental Factors ==

<span style="color: #6aa84f; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">NF is a genetic disorder mostly unaffected by its environment; its severity and characteristics depend almost solely on the genetic makeup of its carrier. It is possible that pathogenic mutations may cause NF and spontaneous mutations do cause the disorder in developing fetuses, but, more often than not, all types of NF are inherited and determined by the severity of the P generation’s mutation(s). Spontaneous mutations are rare and the pathogen that causes pathogenic mutations is still unknown. No known environmental factors either aggravate or alleviate any type of NF. ||



<span style="color: #6aa84f; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">Pathogens may have a hand in causing some cases of NF ||
 * == Commonality/Testing ==

<span style="color: #741b47; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">NF1 occurs in approximately 1 in 4,000 births. NF2 occurs less frequently: in 1 in 40,000 births. Occurrences in both disorders are present in all races, sexes, and parts of the world equally.

<span style="color: #741b47; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">As for testing, the process is essentially the same for both NF1 and NF2. Testing by a doctor may include… <span style="color: #741b47; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">NF1 can often be diagnosed with only a physical examination, but may need further testing like NF2. ||
 * <span style="color: #741b47; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">a physical examination (for cafe au lait spots, neurofibromas, etc.)
 * <span style="color: #741b47; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">eye and ear exam (for internal tumors)
 * <span style="color: #741b47; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">imaging tests (x-rays, CT scans, and MRIs to check for internal tumors or bone deformities)
 * <span style="color: #741b47; font-family: Georgia; font-size: 13.999999999999998pt; vertical-align: baseline;">(prenatal) genetic tests

<span style="color: #741b47; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">Eye exam

<span style="color: #741b47; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">Ear exam

<span style="color: #741b47; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">MRI

<span style="color: #741b47; font-family: Georgia,serif; font-size: 13.999999999999998pt; vertical-align: baseline;">CT scan ||
 * == Sources == || [|_] <span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|_https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754363/__]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490__]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1#inheritance__]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://www.ncbi.nlm.nih.gov/pubmed/22889851__]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://www.genome.gov/14514225/learning-about-__] <span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|neurofibromatosis/]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1#genes__]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://www.genome.gov/14514225/learning-about-neurofibromatosis/__]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://emedicine.medscape.com/article/950151-overview__]

<span style="font-family: Georgia,serif; font-size: 13.999999999999998pt;">[|__https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/diagnosis-treatment/drc-20350495__] ||