What is Neurofibroma?
is a genetic disorder or condition that interferes with the cell growth of the nervous system causing the formation of tumors on the nerve tissues. These tumors can appear in any place of the nervous system, namely:
- Spinal cord
- Large nerves
- Small nerves
The best part of this disorder is that it can be diagnosed at the childhood stage or at the early adulthood stage which helps in better treatment. These tumors are normally benign in nature( non cancerous) and is usually a mild condition. But the chronic effect can lead to:
- Learning impairment
- Hearing loss
- Cardiovascular complications
- Can become cancerous
This disorder is mostly found in people aged 20 to 30 years.
What Causes Neurofibroma Disorder?
The real cause leading to this disorder is yet to be revealed by the medical science world. Thought the research have revealed that it is mostly due to the genetic defect called as mutation which can be transferred through the parents or can occur spontaneously during conception. These disorders are of many types and each type is caused due to mutation of different genes. These are of many types which lead to the causes of the disorder:
Neurofibromatosis 1 or NF 1:
This gene is located at chromosome number 7 which is called as Neurofibromatosis 1 gene. There is protein named nerofibromin which is produced by this gene which is found in large amount in the nervous system tissue for the proper cell growth function. Due to mutation of NF 1 gene this neurofibromin protein is destroyed which causes uncontrolled division of nervous cell system. This causes tumor characteristic of NF1.
Neurofibromatosis 2 or NF2:
This gene is located on chromosome 22 and shows the similar problem as that of NF1. The protein produced here is known as merlin. Due to mutation or genetic changes of this gene, merlin is destroyed leading to tumorous growth of cells.
This is the latest research of this disorder and has been identified as separate type. The exact cause is still being researched. In the study of some small similar cases, it was found that this has been associated with SMARCB/INI 1 gene. Schwannomatosis is much more sporadic and spontaneous than the inherited condition.
What are the Diagnosis Procedure for Neurofibroma?
There are 6 main findings for this condition which are done by the following ways:
X-Ray Results along with Advanced Imaging Findings:
- Plain x-ray film shows the lesion as an intraosseous lytic lesion.
- Ultrasound shows a well-defined hypo echoic mass.
- CT scan shows a hypodense, well-defined mass.
- On MRI testing the lesions are seen as bright colored mass with a low density spot at the centre. The “dumbbell” lesion is used for an enlarged intervertebral foramen.
Lesions are seen as a firm, gray-white mass with no capsule. They are different in sizes starting from few millimeters to five centimeters.
The histopathology findings have shown the fibromas as interlacing elongated bundles of cell. These cells are disorderly arranged with the collagen strands. These findings have even shown two different types of neurofibromas namely:
These are delineated neurofibromas where in the lesions are firm with white and shiny appearenaces.
These lesions are multifocal myxoid which are described as “bags of worms”. They are even the diagnostic finding of Recklinghausen’s disease.
Physical exam and medical history:
There is a use of special lamp by the doctors to check the skin. If you are suffering from this condition then your skin will show light colored café spots.
Ophthalmologist can detect tiny bumps on the iris portion of the eye along with the presence of cataracts.