What is Neurofibromatosis?
Neurofibromatosis (NF) is a condition that may affect nearly any part of the body but this primarily involves the nerves. Generally, there’s tumor formation within the nerve tissues in neurofibromatosis. Though these growths are considered to be just benign, these are still detrimental and disfiguring for an individual as these may lead to nerve compression and both skin and bone abnormalities. This can be the reason why neurofibromatosis can be classified as a neurocutaneous syndrome. The nerves, skin and bones are the main organs affected but the brain, spinal cord and other parts of the body could also get affected.
This is also a genetic condition that observes an autosomal dominant pattern. This means that only one copy of the defective gene is needed to transfer the disorder. People from all age groups may suffer from NF. Nevertheless, the majority of NF cases are diagnosed in children aging 3-16. Both males and females may have neurofibromatosis. Neurofibromatosis may be initially manifested by café au lait spots. These spots are generally not itchy and non-tender and remain to be just spots. However, studies have discovered that around 3 to 5% of these spots have the likelihood to become malignant.
Scientists are still on the look out for the cure of neurofibromatosis. Removal of the nerve tissue tumors (neurofibromas) is possible through surgery. Nonetheless, this can be really detrimental especially to a child’s cognitive faculties.
There are actually two classifications of neurofibromatosis which are:
Neurofibromatosis Type 1
Neurofibromatosis type 1 is also referred to as Von Recklinghausen disease and is more common. NF type 1 may occur in 1 in every 4,000 live births and is accountable for about 90% of the total cases. NF-1 is primarily due to the mutation of neurofibromin1. The nerves located in the periphery (peripheral nervous system) are greatly involved in NF-1 and this condition is deemed to be chronic.
Neurofibromatosis Type 2
On the other hand, NF type 2, the rare one, is also known as bilateral acoustic neurofibromatosis in 1 in every 40,000 births and mainly affects the central nervous system. Unlike NF-1, this is brought about by the mutation of merlin (neurofibromin2).
The symptoms associated with NF may differ between individuals due to variable expressivity. So, don’t be surprised that some may suffer from severe NF while others simply don’t. The appearance of brown spots called café au lait spots is the primary indication of NF. If a child has more than 5 café au lait spots which are at least half an inch in size, NF could be suspected. The symptoms of NF may be grouped according to the type one has.
Lisch nodules - These tiny tumors are specifically found on the iris, the colored portion of the eyes. Kids aging 6-10 may already manifest Lisch nodules. These nodules are something not to worry about because these do not bring about any medical concerns.
Multiple birthmarks – The appearance of several birthmarks is also another common manifestation of NF1. Around 6 or more birthmarks or café au lait spots are seen in people with NF. Nevertheless, café au lait spots cannot be made the sole indication for NF. It is still possible that people without NF have several birthmarks scattered all over their body. The size of café au lait spots may range from 5 millimeters to half an inch and these appear in various sizes. Just like Lisch nodules, these also do not bring forth any medical problems but these spots may darken and may look unsightly as the condition progresses.
Neurofibromas – People with NF are also likely to develop small tumors but some simply do not. Neurofibromas are often small, painless tumors. These tumors also grow very slowly but may be detrimental because these may affect the brain and the spinal cord. When these tumors affect the nerves of the eyes (optic glioma) visual disturbances may be noted. Aside from being disfiguring, this may also be detrimental and may lead to paralysis. Neurofibromas may also become life-threatening if left untreated.
Other symptoms of NF1 include:
- Cognitive impairments/learning disabilities (mental retardation in some cases)
- Speech problems
- Large head (macrocephaly)
- Enlarged/disfigured bones
- Short stature/stunted growth
- Abnormal curvature of the spine (scoliosis)
- Increased cancer risk
Hearing loss – The main symptom of NF2 is hearing loss because the auditory nerves (nerves for hearing) are affected. As these tumors continue to grow the auditory nerves may be compressed resulting to progressive hearing loss. Other symptoms may also be noted, including:
- Facial pain/numbness
- Ringing in the ears
- Balance problems
- Lack of coordination
Neurofibromatosis being an autosomal dominant genetic disorder is 50% likely to be passed by an affected parent to his or her offspring. However, not all of those who suffered from NF have a family history of the condition and this case has been found to be primarily due to spontaneous mutation of both the sperm and the egg whilst the embryo is still developing. Generally, half of the NF cases may be inherited while the remaining half may be accounted from spontaneous mutation. The main problem in NF1 is specifically found in chromosome 17 while NF2 is due to the mutation in chromosome 22. Chromosome 17 contains neurofibromin, a tumor suppressor gene and when this undergoes mutation, cell proliferation goes out of control resulting to NF1. The same pathology may also be true in NF2.
The diagnosis of NF may involve physical examination as well as obtaining the patient’s medical record. Prenatal testing would also help detect the presence of mutations in a developing embryo. This can be done either through chorionic villi sampling or amniocentesis. Generally, the diagnosis for NF can be based on its clinical manifestations. Imaging studies like MRI and CT scan may also be beneficial to detect the presence of tumors and other abnormalities.
As mentioned earlier in this article, there’s still no available cure for neurofibromatosis. The main aim of the treatment is to address each of the symptoms instead. Removal of the neurofibromas through surgery is also another goal. Generally, treatment is very specific in neurofibromatosis. Whenever this has turned into something cancerous, chemotherapy and radiation therapy may be indicated but this is a rare case. Additionally, auditory brainstem implant is the latest breakthrough in the treatment of NF2, specifically. Furthermore, children with learning disabilities may benefit from a special type of therapy and these kids should also be given special attention in school.
Not all people with neurofibromatosis suffer from serious symptoms. As a matter of fact, nearly 60% of those people diagnosed with NF1 only manifest mild to moderate symptoms which basically do not call for any special treatment and rarely evolve to complications. Even when individuals are diagnosed with NF, they’ll still be able to live normal and healthy lives provided the right treatments and complications are prevented. Parents of children with neurofibromatosis should also be properly educated about this condition to allay their fears and other concerns. Finding a support group is also essential in battling against neurofibromatosis.
Picture collection of Neurofibromatosis…