Neurofibroma: Causes, Symptoms and Treatment

Neurofibromas are intricate benign tumours that mainly impact the peripheral nervous system. They are often linked with Neurofibromatosis Type 1 (NF1), a genetic disorder. It is vital for both patients and healthcare providers to understand the causes, symptoms, and treatment options for these tumours.

It is a tumour that develops from the nerve sheath, the protective layer around nerves. While typically non-cancerous, these tumours can sometimes lead to significant discomfort or complications based on their size and location. However, in rare cases, Neurofibroma is cancer, making timely diagnosis and management essential. Neurofibromas are most frequently associated with Neurofibromatosis Type 1 (NF1), a hereditary condition.

What are the Different Types of Neurofibromas?

Neurofibromas are non-cancerous nerve sheath tumors often linked to Neurofibromatosis Type 1 (NF1), a genetic condition. These tumors develop from Schwann cells and fibroblasts. They are categorized based on their location, structure, and growth pattern. Here are the main types:

Cutaneous Neurofibromas: These are soft, skin-colored bumps that appear on or just under the skin. They are usually harmless but may cause concern due to their visible appearance.
Subcutaneous Neurofibromas: These firm lumps are located beneath the skin and can sometimes cause pain or tenderness. While not easily visible, they may lead to discomfort.
Plexiform Neurofibromas: These are larger, more complex tumors involving multiple nerves, often present from birth. They can grow over time, leading to complications or noticeable disfigurement.
Spinal Neurofibromas: Found along the spinal cord or nerve roots, these tumors can press against the spinal cord. They might cause symptoms like pain, weakness, or numbness in the body.
Diffuse Neurofibromas: These are flat, sheet-like tumors that spread over a large area of the skin. Commonly seen in children, they may involve deeper tissues and sometimes cause functional issues.
Intraneural Neurofibromas: These are tumors that develop within a single nerve and may affect its function if they grow too much. Though less common, they can lead to localized nerve-related problems.

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What are the Causes of Neurofibromas?

The main Neurofibroma causes are genetic mutations, particularly those linked to Neurofibromatosis Type 1 (NF1), a hereditary condition. These mutations affect the NF1 gene, which produces neurofibromin, a protein responsible for controlling cell growth. When this gene malfunctions, it can lead to the formation of neurofibromas due to uncontrolled cell growth. Here are the key Neurofibroma causes:

Genetic Mutations: Mutation in the NF1 gene causes loss of neurofibromin, leading to abnormal cell growth and neurofibroma formation. This mutation can be inherited or occur spontaneously.
Hereditary Factors: NF1 is passed down in an autosomal dominant pattern, where a child has a 50% chance of inheriting it from an affected parent.
Spontaneous Mutations: In nearly half of the cases, Neurofibroma causes include new mutations with no family history of NF1.
Cellular Abnormalities: Dysfunction in Schwann cells and other support cells of the nervous system can lead to the development of these tumors.

What are the Symptoms of Neurofibromas?

Neurofibroma symptoms can differ significantly depending on the size, location, and kind of tumor. While some neurofibromas may not cause any major issues, others may cause discomfort, obvious changes, or health issues. Here are the common neurofibroma symptoms include:

Skin Alterations: Skin nodules or lumps that are soft and flesh-colored (cutaneous neurofibromas). Neurofibromatosis Type 1 (NF1) frequently manifests as café-au-lait spots, which are light brown areas on the skin.
Pain or Tenderness: Subcutaneous neurofibromas may cause pain or sensitivity, especially when touched or pressed.
Swelling or Disfigurement: Plexiform neurofibromas can grow large, leading to visible swelling or even disfigurement.
Neurological Symptoms: Tumors pressing on nerves can result in weakness, numbness, or a tingling sensation. Spinal neurofibromas may cause back pain or problems with mobility.
Functional Impairments: Larger or deeply situated neurofibromas may impact nearby organs or interfere with normal body functions.
Cosmetic Concerns: Visible neurofibromas on the face or other exposed areas can lead to emotional distress or self-consciousness.

Diagnosis of Neurofibromas

Benign tumors called neurofibromas develop on nerve tissue and are frequently linked to the genetic condition neurofibromatosis. A comprehensive clinical examination, imaging studies, and occasionally a genetic study are required for the diagnosis of neurofibroma.

Diagnosis Process:

Clinical Evaluation: During the evaluation, the doctor will look for signs such as café-au-lait spots on the skin, multiple neurofibromas, and a family history of neurofibromatosis.
Neurofibroma Radiology: The most widely used imaging method is MRI, as it offers detailed images of the nerve structures and surrounding tissues, helping to detect and assess the tumours.
Biopsy: In some cases, a biopsy may be performed to confirm the diagnosis by looking at the tissue under a microscope. This is part of the Neurofibroma pathology outlines, where the cellular features of the tumour are studied.
Genetic Testing: Testing for mutations in the NF1 gene can help confirm neurofibromatosis type 1, aiding in the diagnosis of neurofibromas.

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Treatment Options for Neurofibromas

The size, location, and presence of symptoms are some of the variables that affect how neurofibromas are treated. Treatment for neurofibroma in India is customized to meet each patient's unique needs. The majority of neurofibromas are benign, so unless they create problems, they might not need to be treated right away. The following are some popular therapy choices:

Observation: If the neurofibromas are not causing any symptoms, doctors may recommend regular monitoring through imaging and physical examinations. This is often the case for smaller tumours.
Surgical Removal: If the neurofibroma is causing pain, neurological problems, or cosmetic concerns, neurofibroma treatment in India often involves surgical excision. The goal is to remove the tumour while preserving the nerve function as much as possible.
Radiation Therapy: For large or difficult-to-remove tumours, radiation therapy may be considered, especially if surgery is not an option. This helps to shrink the tumour or control its growth.
Medical Therapy: New treatments, including medications like MEK inhibitors, are being explored in clinical trials. These drugs may help shrink the neurofibromas or prevent their growth.
Pain Management: In cases where the neurofibromas cause discomfort or pain, pain relief options such as NSAIDs or stronger analgesics are provided to improve quality of life.
Genetic Counseling: For patients with neurofibromatosis type 1, genetic counseling helps in understanding the risks of passing the condition to offspring and in making informed family planning decisions.

Living with Neurofibromas

Living with neurofibromas can be challenging, but there are strategies to manage the condition effectively. Regular follow-ups with healthcare providers, staying informed about new treatment options, and seeking support from patient advocacy groups can make a significant difference.

Psychological Support

The psychological impact of neurofibromas, particularly those causing cosmetic concerns or functional impairment, can be profound. Counseling and support groups can provide emotional support and coping strategies.

Lifestyle Modifications

Adopting a healthy lifestyle can help manage symptoms and improve overall well-being. Regular exercise, a balanced diet, and stress management techniques are beneficial for individuals with neurofibromas.

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Frequently Asked Questions

Can neurofibroma be cured?

Neurofibromas cannot be fully cured, but they can be managed with surgery or other treatments to remove or reduce symptoms.

Do neurofibromas get worse with age?

Neurofibromas may grow in size and number over time, particularly in individuals with neurofibromatosis, but not all cases worsen significantly with age.

What is the difference between a neurofibroma and neurofibromatosis?

A neurofibroma is a benign tumor that grows on nerves, while neurofibromatosis is a genetic disorder that causes multiple neurofibromas to develop in the body.

Can a neurofibroma be cancerous?

While most neurofibromas are benign, in rare cases, they can develop into a cancerous form called malignant peripheral nerve sheath tumor (MPNST).

What not to eat with neurofibromatosis?

There are no specific foods to avoid with neurofibromatosis, but a balanced diet rich in antioxidants and low in processed foods may help manage symptoms.