Neurofibroma can be caused by reasons like a disturbance in cell signalling or the cell cycle that leads to abnormal histological manifestations. Generally, these are caused due to genetic factors.

Genetic mutations that occur in the intrauterine life or defective genes passed down by the parents are known to be the common causes of this disease. A few known genes that are responsible are:

• NF1
• NF2
• Schwannomatosis

Your doctor will start with a detailed medical history along with any relevant family history to make a diagnosis.

A detailed physical examination includes checking the skin for cafe au lait spots and examining the eyes for cataracts, vision changes, or tumour growth. Hearing and balance tests like audiometry, electronystagmography, brainstem auditory evoked response (BAER) might be performed by your doctor in-office in one visit.

If suspicious about NF2 or schwannomas, your doctor might recommend imaging like CT scan, MRI, or X-rays. It is to view the tumour, spot any gliomas, and also check the bone density.

Genetic testing is also a method to diagnose NF1 and NF2 types, but not schwannomas. These tests are done during pregnancy. You can ask your doctor about genetic counselling. Your doctor will guide you on which tests to undergo if needed.

The signs and symptoms differ according to the type of Neurofibroma as mentioned below:

• Neurofibromatosis 1 (NF1): This variant occurs during childhood, and thus, the signs and symptoms are seen in childhood itself. In some cases, they are noticeable at birth.
  1. Flat, light brown spots on the skin are very obvious signs. These spots are known as the ‘cafe au lait spots’. The NF1 gene is identified distinctly if six or more of these spots are present, as there are other reasons for the formation of cafe au lait spots. If you do not see six spots, it is a good sign as they stop forming after the age of 1.
  2. Tiny bumps on the iris of your eye are known as the ‘Lisch nodules’. They do not cause any vision disturbances and are harmless.
  3. Abnormal bone formation and decrease in bone density. It usually causes problems like scoliosis or bowing of the tibia.
  4. Impaired growth during childhood causes below-average height.
• Neurofibromatosis 2 (NF2): Also known as vestibular schwannomas. These are a rarer form and grow in the nerves from the inner ear to the brain. The function of these nerves is to carry sound and balance signals, and therefore, this tumor causes hearing issues. Signs and symptoms like headache, tinnitus (ringing in ears), imbalance while standing up or walking, and eventual loss of hearing. The symptoms develop in late teens to early adulthood.
• Schwannomatosis: This is a form that occurs in the latter part of life, usually after the age of 20 or 30. It affects the central nervous system or the peripheral and therefore causes pain in those parts of the body that have been affected. Loss of muscle is also generally seen. Eventual loss of tactile sensation and weakness leads to disability.

Sadly, there is no cure for Neurofibroma. The treatment options available only control the signs and symptoms. Your doctor will mostly ask you to closely monitor the signs and symptoms and notify him of any changes.

For NF1, your doctor might maintain a growth chart by regularly measuring your child’s height and weight.

For plexiform Neurofibroma, Selumetinib is a medication of choice. Currently, there aren’t many medicines for this disease. Clinical trials and research for similar drugs are ongoing.

Surgical removal of the tumour is also an option. Your doctor might recommend part or complete removal of the tumour pressuring the surrounding organs or nerves. It is usually done for schwannomatosis, which results in a noticeable improvement in the level of pain.

The prognosis of the treatments is average as it is not a cure. However, it can reduce the pain to a great extent.

As the surgery is close to the nerves, it is potentially risky. Any damage to the nerve can cause a temporary or permanent loss of sensory or motor functions. If you notice any burning sensation in a linear pattern over your skin after the surgery, consult your doctor immediately.

These are the risks associated with Kidney cancer surgery:

• Reaction with anaesthesia
• Too much bleeding
• Infection
• Incisional hernia
• Leakage of urine into the stomach
• Kidney failure
• Leakage of air in the chest cavity (pneumothorax)