Neurofibromatosis Type 1

​By: Joy Dong

Neurofibromatosis Type 1, also referred to as NF1, was discovered in 1882 and named by Frederick von Recklinghausen.

Symptoms:
Cafe-au-lait spots, neurofibromas, tibial bowing, plexiform neurofibromas, and axillary freckling are all symptoms of NF1. Cafe-au-lait spots are usually harmless and commonly known as birthmarks, but they can indicate NF1 or other genetic conditions if multiple appear on the skin. Tumors that grow on nerves inside the body are called neurofibromas, with plexiform neurofibromas arising from multiple nerve bundles. These symptoms both strongly indicate to doctors that a patient could have NF1. 10% of NF patients will also have anterolateral tibial bowing, which is just a variation of tibial bowing. Tibial bowing is the curvature of the tibia, a bone that is located in the lower portion of the leg. 50% of ALB patients are also diagnosed with neurofibromatosis. Lastly, axillary freckling, another symptom of NF1, is characterized by a large amount of dark freckles in the armpit area. The color comes as a result of an overproduction of melanin from the body. 

People Affected:
Neurofibromatosis affects around one in 3,000 people in America. It can affect all minorities, ethinic groups, and genders. 

Diagnosis:
Most people with NF1 are diagnosed at around four to eight years old. Doctors should check the family history of patients and do a complete physical exam to determine the diagnosis. Using a medical lamp, they check for cait-au-lait spots, a strong indicator of this disorder. Physicians may also do eye exams to try and detect Lisch nodules and/or cataracts. A wide variety of scans, such as X-rays, MRIs, and CT scans to find bone defects and tumors can be used as well. They also do genetic tests since NF1 is a genetic disorder that is mostly inherited. 

Likelihood of Getting NF1:
Neurofibromatosis is caused by a gene mutation of the Neurofibromin 1 gene, found on the 17th chromosome. The defective gene can be either passed down from parent to child, or can occur randomly. If the parent has NF, the child has a 50% chance of inheriting the disorder, because it is an autosomal dominant disease. NF1 is classified as a single-gene disorder, not a chromosomal condition. This is because it only mutates one chromosome and it is not caused by a missing or changed gene. 

Treatments and Cures: 
Currently there is no cure for NF1, but doctors can manage and monitor symptoms. Surgery is used frequently to remove tumors from important tissue and organs in the body. If the tumors are cancerous, the patient may undergo chemotherapy or radiation. If the patient has ADHD or learning disabilities, which are fairly common, they can use IEP or other medications. To manage pain, an array of drugs can be prescribed. Research has shown that Neurofibromatosis Type 1 does not have any bearing on patients’ lives. 

Sources: 
https://rarediseases.org/rare-diseases/neurofibromatosistype-1-nf1/ https://www.hopkinsmedicine.org/neurology_neurosurger y/centers_clinics/neurofibromatosis/nf1/treatment-nf1.html https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1 https://en.wikipedia.org/wiki/Neurofibromatosis https://www.mayoclinic.org/diseases-conditions/neurofibr omatosis/diagnosis-treatment/drc-20350495 https://nfcenter.wustl.edu/research/research-news/brain -tumors-occur-often-in-kids-with-common-genetic-syndr ome/

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