Neurofibroma - Symptoms & Causes

What is a neurofibroma?

Neurofibroma is a type of benign (non-cancerous) tumour that arises from the nerve tissue. It is most commonly associated with the peripheral nervous system, which includes all nerves outside of the brain and spinal cord.

Neurofibromas are commonly linked to a genetic disorder called Neurofibromatosis type 1 (NF1), although they can also occur sporadically, without any apparent genetic predisposition.

What are the symptoms of neurofibroma?

The symptoms of neurofibroma can vary widely depending on the size and location of the tumour. Common signs include:

• Visible lumps on or under the skin, which are typically soft and may be painless
• Pain or discomfort if the tumour compresses nerves or nearby structures
• Itching around the affected area
• Neurological symptoms such as tingling or numbness if the tumour affects nerve function

In cases where multiple neurofibromas are present, as often seen in NF1, symptoms may be more pronounced and can affect overall health more significantly.

What causes neurofibroma?

Neurofibroma is primarily caused by a genetic mutation in the NF1 gene, which plays a crucial role in cellular growth control and nerve tissue development. This mutation can be inherited from a parent who has NF1 or can occur spontaneously.

NF1 codes for neurofibromin and loss of this gene product in NF1 results in elevation of growth promoting signals and increases the risk of tumor formation. Environmental factors do not appear to play a significant role in the development of these tumours.

What are the complications and related diseases for neurofibroma?

Neurofibromas, particularly when multiple, can lead to several complications, including:

• Disfigurement and psychological distress due to visible tumours
• Increased risk of developing malignant (cancerous) peripheral nerve sheath tumours, especially in cases of NF1
• Bone deformities and curvature of the spine (scoliosis) if the tumours affect skeletal development
• Cardiovascular issues, such as high blood pressure, if the tumours compress renal arteries

Related diseases include other forms of neurofibromatosis, such as NF2, both of which also involve tumour growth on nerves but have distinct genetic and clinical features.

How do you prevent neurofibroma?

Currently, there is no known method to prevent neurofibroma, particularly in individuals genetically predisposed to NF1. Genetic counselling is recommended for families with a history of neurofibromatosis to discuss the risks of inheritance and possible early interventions.