Neurofibroma - Diagnosis & Treatment

How is neurofibroma diagnosed?

Diagnosis of neurofibroma typically involves a combination of:

• Medical history and physical examination, focusing on visible tumours and neurological symptoms
• Imaging studies such as MRI or CT scans to identify the extent and location of deep-seated tumours
• Biopsy of the tumour, if necessary, to confirm the diagnosis and rule out malignancy
• Genetic testing, particularly in individuals with a family history of NF1, to identify mutations in the NF1 gene

How is neurofibroma treated?

Treatment of neurofibroma depends on the symptoms, size, and number of tumours, and may include:

• Monitoring small, asymptomatic tumours for changes in size or symptom
• Surgical removal of tumours that cause pain, functional impairment, or cosmetic concerns
• Radiation therapy or chemotherapy in cases where surgery is not feasible or in the management of malignant transformations
• Pain management and psychological support to address symptoms and improve quality of life

Ongoing research is focused on developing targeted therapies that can control tumour growth more effectively, particularly for patients with NF1. Regular follow-up with a healthcare provider specialising in neurofibromatosis is crucial for managing the condition and monitoring for potential complications.