If you are particularly squeamish and have never seen photographs of patients with neurofibromatosis, I would not recommend it. This disorder is genetic and causes tumours to form in the brain, spinal cord and nerves. A neurofibroma is a soft bump on or under the skin.
There are two major types of neurofibromatosis. The first (referred to as NF1) typically arises during childhood and causes changes in pigmentation as well as tumours. Symptoms and signs of this type range depending on the individual patient. With no complications, a person with Type 1 has the same life expectancy as anyone else. Although, it is a cause for ADHD and generally learning disabilities have been detected as an issue. The second type is correlated with neuromas and includes noncancerous tumours that occur on nerves that function for the balance of the body as well as hearing which lead to the inner ear. Consequently, they can result in problems regarding these aspects. NF2 patients have a higher vulnerability to other tumours related to the nervous system. Again, these are noncancerous but can lead to other medical complications especially when there is an elevated number of tumours in or around the brain.
The cause of these conditions is a mutation in the NF1 or NF2 gene. The NF1 mutation is found on chromosome 17 in the NF1 gene which is a protein that works as a tumour suppressor. In a large number of cases, these mutations are found with no clear cause. Instead of inheriting the condition, they are the first in their family to acquire it and then have the ability to pass it on. NF1 is a very common condition and found in 1 in 3,000 people. On the other hand, NF2 is much rarer with 1 in 33,000 people worldwide. The mutation is found in chromosome 22 on the NF2 gene which sends instructions for the production of a protein called merlin which is created in the nervous system in Schwann cells. Merlin also acts as a tumour suppressor and prevents cells to uncontrollably divide which is what ultimately creates tumours.
A diagnosis of NF1 is possible when the patient has two of the following: Six or more café-au-lait spots which are at least 5mm in size before puberty or 15mm in size after puberty, freckling of the underarm or groin regions, abnormal amounts of pigment in the coloured part of iris, abnormalities of bone development in the head or abnormal bowing of the bone, two or more neurofibromas of any type of plexiform neurofibroma, a relative who is known to have the condition. The diagnosis of NF2 works differently. Bilateral vestibular schwannomas are crucial criteria in distinguishing the condition. This affects the hearing nerves in the ears and causes other listening problems. A first-degree relative is also an important factor since the condition is genetic. Additionally, the presence of factors such as meningioma, glioma, neurofibroma, schwannoma and juvenile cataracts play a role in the diagnosis.
On top of the diagnosis criteria, there are other symptoms associated with both major types of neurofibromatosis. For NF1, these include a shorter than average height, larger head size, and as previously mentioned, learning disabilities. For NF2, these include gradual hearing loss, ringing in the ears, poor balance and headaches. If the development of more tumours occurs, then more extreme symptoms such as seizures and vision problems come into play.
For NF1, the neurofibromas usually increase in amount with age uncontrollably and without a pattern. The colours and shapes of the balls and spots may change as well. Type 1 is rarely lethal. Unfortunately, this is not the case for NF2, as the condition can become life-threatening. Treatment is immediate and necessary.
Treatments for NF1 depend and range very closely on the symptoms. Surgery can be used for tumours and neurofibromas. Radiotherapy and chemotherapy can be used to treat some tumours of Type 1. Additionally, for issues relating to bones, braces can be used to ensure the development stays on track. Learning disabilities are treatable through medications such as dextroamphetamine as a stimulant medication for ADHD, and behavioural therapy can be useful as well. Treatment for NF2 becomes more serious since mortality is at an increased rate. Surgery is the most common treatment for this condition to remove peripheral nerve tumours and vestibular schwannomas (under certain circumstances). Furthermore, issues with balance and hearing can be treated through hearing aids and the education of sign language as well as physical and occupational therapy.
Schwannomatosis is also known as the third type of neurofibromatosis. This is the rarest of all types, affecting 1 in 40,000 to 1 in 1.7 million people. When one is diagnosed with this condition, the individual has a mutation in both the NF1 and NF2 genes. The symptoms relating to this condition are immensely painful and numerous. Symptoms include difficulty with urination, bowel dysfunction, vision changes and lumps/swollen areas where tumours form under the skin. There is no cure for this condition, and treatment is narrowed down to surgery to remove the tumours.
In conclusion, neurofibromatosis is a genetic condition that affects various parts of the body in aggressive ways. This is caused by the mutations of various genes of neurofibromatosis. Treatments are mainly surgeries and therapies which are moreover covered by insurance. These conditions are treated by an interdisciplinary team that include neurosurgeons, neurologists, geneticists and more.
