Time to find out about Neurofibroma

A neurofibroma is a genetic condition that results in tumours growing along the nerve sheath. The tumours can develop anywhere in the body and can affect major and minor nerves. Although the tumours are usually benign (non-cancerous) they can cause a number of symptoms. Neurofibromas and schwannomas are similar, however schwannomas tumours grow on the nerve itself, whereas neurofibroma tumours grow on the connective tissue.


Neurofibroma is caused by a faulty gene, which leads to uncontrollable growth of tumours along with the nervous system. In half of the cases, the faulty gene has been passed down from parent to child. Children are at risk of developing the condition even if only one of the parents carries the faulty gene (50% chance). In some cases, the faulty gene can occur spontaneously. It is still unclear as to why this happens. If a child develops neurofibroma spontaneously it is unlikely that the faulty gene will be passed down to any further children. However, a person who develops neurofibroma spontaneously can pass the faulty gene to their children.


Symptoms

The most common symptom of neurofibroma is painless, coffee-coloured patches on the skin called café au lait spots. These spots can be visible at birth or can develop by the age of three. Most children with neurofibroma will usually have around six café au lait spots that will grow to around 15mm during adulthood. Although this is the most common symptom, not everyone with neurofibroma will have café au lait spots.


Another common symptom that associated with neurofibroma is clusters of freckles that appear in unusual patches, for example under the armpit or in the groin area.

As a child gets older, the neurofibroma tumours may become visible on or under the skin. These tumours are usually around the size of a pea, and can sometimes have a purple appearance. The number of neurofibromas that a patient has can vary depending on the case. The tumours are usually painless, however, bigger tumours may cause pain if they get on clothes.


For some patient's, tumours occur on larger nerves that deeper in the body. If this is the case the patient may experience pain, weakness, numbness, bleeding or bladder or bowel function changes.



Other symptoms that are associated with neurofibroma

· Learning and behavioural problems

· Problems with vision, due to tumours on the optical pathway

· High blood pressure

· Curved spine

· Larger than average head

· Lower weight than normal

· Migraines

· Development of cancer tumour (15% chance over the lifetime of someone with neurofibroma)

· Abdominal pain


Treatment

Most children with neurofibroma will have a skin examination annually to check for new tumours and changes to the skin. Eye examinations are also conducted to ensure that no tumours have grown in the optical pathway. Bone assessments, behavioural assessment, blood pressure measurements are also usually conducted to assess whether the patient has developed any of the other symptoms that are associated with neurofibroma.


These assessments will also be done for adult patients; however, it is likely that they will learn to notice different symptoms associated with their condition as they get older and know when to seek help from a professional.


There is currently no known cure for this condition. In some cases, the tumour will be removed surgically, or reduced in size using radiation therapy. Surgery is not anyways used to remove these tumours as it can lead to further neurological issues due to the location.


This article is intended to inform and give insight but not treat, diagnose or replace the advice of a doctor. Always seek medical advice with any questions regarding a medical condition.

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Domenico Valenti produced by 2xN Limited

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