What is neurofibromatosis, what are the symptoms of Jerome Hamon’s condition and what are the different types?

JEROME Hamon, 43, from France, has just received his third face transplant after suffering with neurofibromatosis type 1.

But what is neurofibromatosis and how do the different types differ? Here's the lowdown.

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What is neurofibromatosis?

Neurofibromatosis is a group of conditions where tumours grow on the nervous system.

It is caused by a genetic mutation in certain genes, and can be either inherited from parents or occur in a patient’s early development.

There are three different types; NF1, NF2, and schwannomas.

Currently, there is no prevention or cure, but the tumours are normally non-cancerous.

A patient may require surgery if the tumours start to cause problems or become cancerous, or they may be treated for complications surrounding the conditions, such as high blood pressure.

In the case of Jerome Hamon, the disfigurement caused by the tumours led him to seek face transplant surgery.

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What are the different types and what are their symptoms?

Neurofibromatosis type I

NF1 has a normal life expectancy, and is caused by a mutation of a gene on chromosome 17, which is responsible for producing a protein needed for normal functioning cells. It affects around one in every 3,000 people, and according to the NHS, its symptoms include:

• Coffee-coloured patches on the skin – there are known as café au lait spots. They can be present at birth or early on in childhood, and can grow from 5mm to 15mm during adulthood.
• Freckles – in unusual places such as the armpit, groin, or under breast.
• Bumps on or under the skin – as children enter their teens or early adulthood, they develop bumps known as neurofiromas that are caused by tumours developing on their nerves. They aren’t painful but if they develop on larger nerves, can causes pain, weakness, numbness, bleeding or bowel or bladder changes.
• Learning or behaviour problems – around 60 per cent of children NF1 have a mild learning difficulty, with a slightly lower IQ than the rest of the population. They can still usually be taught at a mainstream school. Around half of NF1 children have ADHD.
• Tumours on the eye – about 15 per cent of children develop a tumour on the back of their eye, which sends information to the brain. This can result in blurry vision, a change in the way they see colours, squinting, or one eye looking more prominent.

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• High blood pressure – some children have high blood pressure, due to the narrowing of arteries affecting the kidneys, which regulate blood pressure. Children and adults with NF1 should have a blood pressure check once a year to check for more serious complication, such as a stroke or heart attack.
• Physical development – around 10 per cent of children with NF1 have a curved spine (scoliosis). Half of children have a larger and average head, and most are slightly smaller with a lower weight than usual. In slightly more rare cases (around two per cent), children develop pseudarthorsis, which is where abnormal bone development leads to fracture.
• Brain and nervous system – many sufferers experience migraines, and around five per cent develop brain tumours, which can cause personality changes, weakness on one side of the body, and struggling with balance and coordination. Some children also develop epilepsy.
• Malignant peripheral nerve sheath tumour – MPNSTs are a type of cancer than affect around 10 per cent of people with NF1 at some point. It can be serious, and symptoms include neurofibromas changing texture or growing, persistent pain, sudden weakness or numbing, loss of bladder or bowls, and difficult breathing and swallowing.

Patients will receive regular monitoring, where they will have their skin examined, eye tests, bone tests, and blood pressure tests. A child’s physical development and academic progress at school will also be monitored.

If symptoms get worse, they may need surgery to treat scoliosis or bone fractures, radiotherapy or surgery to treat tumours, medication for high blood pressure or behavioural problems, or therapy for learning difficulties.

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Neurofibromatosis type II

This affects around one in every 33,000 people, and people tend to develop tumours on nerves that regulate balance and hearing.  The symptoms are:

• Gradual hearing loss
• Tinnitus (ringing in ears)
• Difficult balancing, such as when in the dark or on an uneven surface
• If tumours develop on nerves to the arms and legs, this can cause weakness in the limbs, and if they develop on the brain or spine, this can cause headaches.

Patients will receive regular monitoring to check that further problems won’t develop, including annual MRI scans, eye tests, and hearing tests. It may be necessary to have surgery or radiotherapy to remove the tumours.

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Schwannomatosis

This has only just been recognised as a form of neurofibromatosis, and is very rare -  only affecting around one in every 40,000 people. Symptoms include:

• Neurofibromas
• Multiple schwannamas around the body (these are benign tumours on the tissue that covers nerves)
• Chronic pain, and occasional weakness, numbness, or tingling
• Can sometimes develop a schwannama on the vestibular nerve in the brain, which is involved in hearing and can cause hearing loss

It can be treated by surgery to remove the schwannamas, or pain management to ease the symptoms, as there are currently no drugs available.