Neurofibromas are benign nerve tumours that grow on the outer layers of the nerves in the body. It consists of an overgrowth of nerve tissue along with blood vessels and other types of cells and fibres that grow on nerves in the skin, under the skin, or deeper in the body, including in the abdomen, chest, and spine.
Associated Anatomy
The brain, spinal cord, and nerve cells.
Neurofibroma Causes –
- The majority of neurofibromas are linked to a hereditary condition known as neurofibromatosis type 1. (NF1). It is brought on by a mutation or alteration in the NF1 gene. As a result, it inhibits cell proliferation, allowing cells to multiply and form tumours.
- If one parent has the NF1 genetic mutation, a child can inherit it.
- Solitary Neurofibromas can, nevertheless, develop in people who do not have NF. These are known as sporadic neurofibroma.
Signs and symptoms –
Signs and symptoms of Neurofibroma include-
- Sensational changes (pain, numbness, tingling)
- Pea-sized bumps on or under the skin
- Changes in mobility
- Flat, light brown patches on the skin (clumsiness in the hands, trouble walking)
- Armpit freckles or groin area freckles
- Tiny lumps on the eye's iris
- Bone malformations
- Learning difficulty
- Disability for clarity
- Large head size
- Optic glioma
Treatment options –
At this time, there is no medication available that can shrink neurofibromas or make them disappear. The only option available currently to combat neurofibromas is surgical removal. There are a few methods to address this-
- Plastic surgery: Your healthcare practitioner may advise you to have benign tumours on the surface or beneath your skin removed.
- Surgery: A neurofibroma that is causing discomfort or weakness, is growing rapidly, or is suspected of progressing into cancer is surgically removed- organs and tissues.
- Radiation Therapy: This treatment includes delivering high doses of radiation to the target area while reducing exposure to healthy tissues nearby. This therapy is required to diagnose a malignant plexiform neurofibroma.
- Combination Treatment: This treatment combines surgery, radiation therapy, and chemotherapy.
Risk Factors -
- A family history of neurofibroma is the most significant risk factor for the disease.
- A person with NF1 has a nearly 7% probability of acquiring cancer over their lifetime.
- It normally begins off benign (noncancerous), then progresses to cancerous, develops rapidly, and occasionally spreads to other parts of the body.
Neurofibroma Stages -
- Localised Neurofibroma- They show as rubbery bumps or lumps on or just beneath the skin, and their size and number might vary. It mainly affects people between the ages of 20 and 30, and it can increase and multiply as they get older.
- Diffuse Neurofibroma (DF) is a type of neurofibroma that develop on the head, trunk, and other regions of the body, they commonly appear as elevated, velvety to the touch, and hyperpigmented skin.
- Intramuscular neurofibromas are painful tumours that form on tiny nerves in the muscles.
- Spinal neurofibromas- This type of tumour develops on the nerve roots or peripheral nerves that branch out from the spinal cord to the rest of the body.
- Plexiform Neurofibromas- This type of neurofibroma damages the nerve plexus (a network of large and small nerves that serve a specific part of the body such as the head, face, sciatic nerve etc.).
- Neurofibromatosis (NF)- The majority of neurofibromas are caused by a hereditary condition called neurofibromatosis type1 (NF1). It is divided into three types- neurofibromatosis 1 (NF1) which is usually diagnosed in childhood, neurofibromatosis 2 (NF2) and schwannomatosis are typically diagnosed in early adulthood.
Typical Test -
There are specific tests which are often used for Neurofibroma diagnosis - MRI, CT scan, Electromyography, PET scan and biopsy. MRI (magnetic resonance imaging) and CT scan (computerised tomography) assist in determining the location of a tumour as well as identifying any adjacent tissues or organs. While Electromyography is a type of electromyography that helps to measure electrical pathways in the nerves. PET scan (positron emission tomography) is done to see if it's cancerous or not. And, a biopsy is required to confirm the diagnosis and check for malignant alterations in the tumour.
Primary Prevention-
Neurofibroma is a disease that cannot be prevented. It can, however, be diagnosed through genetic testing to see if you have the gene. Talk to your doctor about genetic testing if you or your partner have neurofibromatosis, or if any of your family members have the disease. It's also a good idea to undergo gene counselling before conceiving if you're planning a pregnancy.
Secondary Prevention –
- Neurofibroma is a common genetic neurological disorder which cannot be prevented. But it can be treated and cured. If your neurofibroma is benign or non-cancerous, your doctor may recommend that you undergo regular check-ups to monitor or keep an eye on your symptoms.
- It is advised to have genetic counselling before planning a pregnancy if any of the parents have a family history of having Neurofibroma.
- Genetic testing is advised if you have any plans to conceive. This will help to predict the risk of disease.
- Carefully follow the surgeon's preventive advice and medication guidelines.
Epidemiology -
- It usually occurs during the second or third decades of life (20-30 years of age).
- Neurofibroma is either sporadic or a part of neurofibromatosis type 1.
- Around 90% of the solitary neurofibromas are sporadic or infrequent and 10% are inherited. The prevalence of inherited neurofibromas is about 1 in 3,000 individuals.
Expected Prognosis-
If neurofibroma isn't too complicated or benign, persons with NF have a nearly normal life expectancy and can live full lives again. However, some unusual problems, such as malignancy, can occur in people who have NF1. People with NF1 are more likely to get this than people without the gene, but it is still uncommon.
Natural Progression –
Over time, adults with NF1 will develop more neurofibromas. If left untreated, it has the potential to spread quickly. They may also alter shape or colour as they develop. When they are bumped, they might cause irritation or slight discomfort.
Pathophysiology –
Neurofibromas develop from nerve sheath cells, and it is made up of Schwann cells, fibroblasts, perineurial cells, and mast cells. They develop along peripheral nerves, including the nerve root; on nerve course sites and at nerve endings. It develops due to mutation in the NF1 gene. The NF1 gene codes for neurofibromin, which is a protein that suppresses tumours by inhibiting the cells from growing or dividing too quickly or uncontrollably. When the NF1 gene mutates, it inhibits cell growth and paves the way for cells to multiply and become tumours.
Possible Complication –
Vision and hearing problems can develop if it presses on the nerves leading to the ears or eyes. It can also affect, short-term memory, Spatial awareness (thinking about objects in different spatially oriented ways), and coordination. Other complications that may appear are- short stature and larger-than-average head size, learning disability, difficulty in paying attention, or focus, problems with speech, hypertension, the curvature of the spine, breathing problems, hormonal changes, optic glioma or tumours on the eye nerves, occasionally causing vision problem, bulging of eyes etc.
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