Neurofibromatosis (NF) is a set of three complex genetic conditions that cause tumours to form on nerve cells throughout the body and affects more than 10,000 people in Australia.
The signs, symptoms, and management of each condition are different, as is the treatment for every individual.
NF1 is the most common of the three genetic conditions, affecting 1 in every 2,500 people in Australia.
Previously known as Von Recklinghausen Disease, around 50% of people affected will have inherited it from one of their parents.
It is most often diagnosed in childhood and characterised by brown skin spots called café-au-lait marks, freckling in the groin and armpits, and benign tumours known as neurofibromas.
NF1 is an extremely variable condition. The majority of people with NF1 will never be impacted by major medical complications and will live a long, fulfilling life. For others, the condition can be severe, debilitating, and life-threatening.
In some cases, signs of NF1 may not appear until later in life, often around puberty.
NF2 is the second most common type of NF and affects approximately 1 in every 25,000-40,000 people. As with NF1, approximately 50% of people affected will have inherited it from one of their parents.
The signs and symptoms of NF2 usually develop during late teens or early adulthood, although around 15% of people with NF2 may develop symptoms earlier.
NF2 is characterised by the development of tumours called vestibular schwannomas (previously acoustic neuromas) on the 8th cranial nerve; the nerve that carries sound and balance information to the brain. It can result in partial or complete hearing loss and usually affects both ears.
Like NF1, it is a variable condition. Along with vestibular schwannomas, people with NF2 may also develop other benign tumours in the brain and spine. Cataracts may appear in young children and other eye abnormalities can be evident throughout life and are likely to become an issue for people with this condition.
Schwannomatosis is the rarest form of neurofibromatosis and has only recently been identified as a separate condition.
This genetic condition affects less than 1 in every 40,000 people and causes the development of tumours called schwannomas to form on nerves on the spine and other peripheral nerves. Occasionally they may form in the brain as well.
Signs of Schwannomatosis usually occur in adulthood, over the age of 30, although they can occur at any age.
Unlike neurofibromas found in people with NF1, schwannomas are typically located deeper inside the body. They are often slow-growing, causing chronic and debilitating pain, and may compromise function.
Most tumours are not cancerous as is the case for the other neurofibromatoses (NF1, NF2).
Source: Children’s Tumour Foundation