1. The Neurofibromatoses are a group of 3 different genetic conditions that cause tumours to grow throughout the nervous system. The three different types are: Neurofibromatosis Type 1, Neurofibromatosis Type 2, and Schwannomatosis.
2. Neurofibromatosis is a systemic condition, which means that it can impact ALL systems in the body.
3. All forms of Neurofibromatosis are genetically dominant, which means that someone who has NF has a 50% chance of passing it onto their offspring. However, more than 50% of NF cases are due to a "spontaneous" mutation of different genes.
4. Neurofibromatosis Type 1 is the most common form of the disorder. It has a prevalence rate of 1 in 3,000 people. NF-1 makes up approximately 90% of NF cases worldwide.
5. Neurofibromatosis Type 1 is caused by a mutation in chromosome 17. This chromosome is responsible for making a protein called neurofibromin, which regulates cell growth. People with NF don't have enough neurofibromin, which is what causes uncontrollable tumour growth.
6. Most people with NF-1 tend to start showing symptoms by the time they are 10 years old.
7. Cafe-au-lait spots are the most common sign of Neurofibromatosis. Cafe-au-lait spots are caused by an excessive amount of a protein called melanin in the skin. One of the diagnostic criteria for Neurofibromatosis is to have six or more cafe-au-lait spots that are at least 0.25 inches in diameter.
8. People with Neurofibromatosis are 5 times more likely to have learning disabilities, and to suffer from ADD and ADHD.
9. 95% of people with Neurofibromatosis have lisch nodules, which are hyperpigmented patches in the eye that do not impede vision.
10. 15-40% of people with NF will be diagnosed with an optic nerve glioma. Most often, these tumors develop in childhood and are very unlikely to develop in adulthood. Typically these tumors are slow growing and have very low malignancy rates. They can however cause vision loss in some people.
11. Skeletal abnormalities include scoliosis/kyphosis, tibial dysplasia, osteoperosis, short stature, macrocephaly (large head) and chest wall deformities are frequently seen in people with Neurofibromatosis.
12. Typically tumours related to Neurofibromatosis are benign, however 5% of NF tumours will become malignant at some point in time.
13. Less than 1% of people with NF-1 will have the following complications: early or late onset puberty, being too tall/too short, excessively itchy skin, hormonal imbalances or having brain tumors other than optic nerve gliomas (fun fact, I have ALL of these complications!)
14. 1 in 3 people diagnosed with Neurofibromatosis will have a plexiform neurofibroma. Plexiforms are tumours that arise from multiple nerve endings, and although they tend to be slow growing, can be very painful and disfiguring.
15. Neurofibromatosis Type 2 has a prevalence rate of 1 in 25,000 people.
16. Neurofibromatosis Type 2 is caused by a mutation of the NF2 gene located on chromosome 22. This gene is responsible for the production of merlin, which helps regulate cellular pathways, maintain cellular shape and regulate cell growth.
17. NF-2 is typically diagnosed later in life as symptoms don't tend to show until the individual is in their late teens or early 20's.
18. Some of the first symptoms to develop in people with NF-2 are problems with balance, ringing in the ears (tinnitus) and gradual hearing loss.
19. The one distinguishing diagnostic criteria that separates NF-2 from the other Neurofibromatoses is the development of tumors on the 8th cranial nerve in both ears (this nerve is important for hearing). In some cases these tumors can cause loss of hearing, and in some cases deafness. These tumors are almost always seen in NF-2 ONLY.
20. Individuals with NF-2 are more likely to develop cataracts (clouding of the cornea) in childhood. If an individual develops cataracts he/she may or may not completely lose their sight.
21. People with NF-2 typically have fewer cafe-au-lait spots than those who have NF-1.
22. People with NF-2 may also experience spasms of the facial muscles; generalized muscle weakness, numbness, pain, and/or partial paralysis; difficulty swallowing; and/or impaired speech.
23. Schwannomatosis is the most "rare" of the Neurofibromatoses, as it only occurs in 1 in 40,000 people
24. Researchers believe that chromosome 22 is also responsible for causing Schwannomatosis, although different genes are mutated than with the development of NF-2. Some research shows there may be a complete deletion of chromosome 22 with the development of Schwannomatosis.
25. Symptoms of Schwannomatosis typically arise around the age of 40.
26. The most common problem that people with Schwannomatosis face are issues with chronic pain. This is usually the first symptom that appears before a person is diagnosed.
27. Schwannomatosis does not share the same genetic patterns than NF-1 and NF-2 do. It tends to skip generations... so your grandma could have it. then your mom may not have it, and then you could have it.
28. NF can also be called von Recklinghausen Disease, although this term is not used frequently anymore.
29. Anyone can have Neurofibromatosis. It does not discriminate against age, race or gender.
30. NF is NOT the Elephant Man Disease. It is actually hypothesized that the "Elephant Man" had a disorder called Proteus Syndrome, which causes there to be an overgrowth of tissues
31. Neurofibromatosis is one of the most common genetic disorders caused by a mutation of a single gene.... more than 2 million people worldwide are affected by this condition! This makes it more common than Cystic Fibrosis, Huntington's, and Muscular Dystrophy... COMBINED!
I hope you all learned something new! Comment below what you learned, or what you would like to learn about in the future!