Neurofibromatosis is genetic condition that affects the growth of cells in nervous system of the body. This disorder can cause formation of tumors in nerve tissues. These tumors may develop in any part of your nervous system. It may occur in regions such as brain, nerves and spinal cord. This condition is often detected in early adulthood or childhood. These tumors are said to be noncancerous or benign in nature; however, in some cases these are recorded to be cancerous or malignant tumors. People affected with this condition are often affected with mild symptoms. There are several effects of the condition such as hearing issues, ocular impairment and cardiovascular complications.
Types and causes of Neurofibromatosis
There are three types of Neurofibromatosis which are Type 1 neurofibromatosis abbreviated as Nf1, Type 2 Neurofibromatosis which is Nf2 and Schwannomatosis.
Type 1 Neurofibromatosis
The type 1 of neurofibromatosis is also called as von Recklinghausen NF, peripheral neurofibromatosis or also as von Recklinghausen’s disease. This condition is transmitted on chromosome 17 and is often caused due to mutation of gene Hf1. In most patients this condition does not lead to serious issues however there is a flimsy chance of tumor turning cancerous.
Type 2 Neurofibromatosis
Types 2 neurofibromatosis is also sometimes referred to as bilateral neurofibromatosis. It results mainly from a mutation of Nf2 and is often transmitted to chromosome 33. This kind of condition causes intracranial tumor which are present in skull. The condition also causes development of tumor in spinal canal which is known as intraspinal tumor. There are several symptoms of the condition which usually becomes obvious during late teens or early 20s. In Bilateral Neurofibromatosis the tumors may also aggravate to become malignant.
This is rare kind of neurofibromatosis that is recorded recently in the medical industry. It is different genetically from Type-1 and Type-2 genetic traits. The tumor caused due to this condition can appear anywhere on the body. In all cases of inherited neurofibromatosis this condition is attributed to merely 15% of the cases. This familial form of the condition is said to be linked with SMARCB1/INI1 genetic mutation. However, the cause of extreme pain that is experienced in the condition is unknown.
Symptoms of Neurofibromatosis
Neurofibromatosis symptoms may greatly depend on the type of the condition and may vary accordingly. Some symptoms of the condition are explained below:
This condition often appears during childhood. In this disorder there are harmless spots appearing on the skin. These spots are also referred to as ‘café-au-lait’ spots. If there are more than 6 of such spots then it may be a strong indication of von Recklinghausen NF (NF1). These spots are not serious medical condition but may become cosmetic concern.
Usually in affected children freckles appear buy the age of 4 to 5 years. These freckling are seen mostly at the armpit and groin region. One common indication of the condition is neurofibromas which are soft bumps appearing on the skin or under it. These are in fact non-malignant tumors that may appear anywhere on the body.
Other symptoms of NF1 includes
- Lish nodules or tiny bumps on eye iris
- Deformities of bone
- Learning difficulties such as impaired thinking skills
- Larger head size than average
- Shorter than normal stature
As compared to Type-1, Neurofibromatosis Type-2 is less common. Symptoms of the condition often develop due to vestibular schwannomas or acoustic neuromas development in both ears. These are non-cancerous and mild tumors which grow on the nerves that regulate sound and manage information between brain and inner ear. This nerve is called the ‘eight cranial nerve’. The symptoms of this condition may often become noticeable during late teen or early 20s. Some common symptoms of the condition include:
- Gradual loss of hearing ability
- Ringing sound in ears
- Poor sound balance
In some situations the condition may cause schwannomas growth in other body nerves such as spinal, cranial, optic and peripheral nerves. Such aggravated stage may causes signs and symptoms such as:
- Facial drop
- Arms and legs numbness or weakness
- Pain in different regions
- Difficulty balancing
Symptoms of Schwannomatosis
This rare form of neurofibromatosis may cause signs and symptoms when a person is in his/her 20s or 30s. This condition may lead to excruciating pain associated with the tumors which are called schwannomas. These tumors often develop on spinal, peripheral and cranial nerves. This condition does not cause hearing impairment because the tumors do not grow on nerves of ear. The condition also does not lead to thinking disabilities. It is only characterized by intense pain of tumor which is unexplainable.
Diagnosis of Neurofibromatosis
Neurofibromatosis diagnosis starts with general probe in clinic by your doctor. Your doctor may ask you about symptoms experienced, medical history and medical history of your family. There are other tests that may be suggested by your health advisor, which may include:
- Physical examination using lamp and analysis of medical history
- Eye examination to check for Lisch nodules
- Ear examination such as audiometry, electronystagmography
- CT Computer Tomography scans
- Magnetic Resonance Imaging or MRI
To confirm the prevalence of the genetic disorder the doctor may recommend genetic tests. These tests can be done prenatally. There are specific tests available for NF1, NF2 and Schwannomatosis.
Treatment for neurofibromatosis
There is no treatment that can completely cure neurofibromatosis. However, the complications of the condition can be monitored and symptoms can be treated accordingly to reduce complications. The affected individual may need a team of specifically trained individuals for assistance. If a child is diagnosed with the condition early treatment is essential to make living better and easier for the child.
- Assessing skin regularly for changes
- Blood pressure tracking
- Evaluating growth physical and mental
- Checking for early puberty signs
- Skeletal anomaly evaluation
- Development of learning abilities and academic progress
- Regular examination of eye to check for changes
If a person is affected with schwannomatosis and is suffering from extreme pain then medicines may be suggested by the doctor to control pain. You may have to undergo invasive treatments to remove tumors which affects nearby organs and tissues. Hearing abilities can also be improved through surgery. In case of vestibular schwanommas doctor may recommend stereotactic radiosurgery. Your doctor will thoroughly analyze the neurofibromatosis and accordingly suggest treatment based on various considerations.