Neurofibromatosis (NF) is a blanket name for three different but related genetic disorders, NF1, NF2 and schwannomatosis, that cause the growth of normally benign, but occasionally cancerous tumours. These tumours, known as neurofibromas can form anywhere on the body there are nerve cells. Neurofibromatosis has no cure and is a lifelong condition but can be managed with regular medical care, enabling people with the condition to lead normal lives.
Neurofibromatosis 1, also known as von Recklinghausen’s Disease is the most common form of the condition, affecting around 1 in 3000-5000 people. The syndrome is caused by a change in a gene on chromosome 17 and displays a huge range of severity, depending on the site & number of the neuromas, with some people being only slightly affected, whilst others may have much more severe, potentially life threatening symptoms throughout their lives. Severity and symptoms of NF1 vary widely from person to person, but can include:
- Cafe au lait spots - flat, coffee coloured patches on the skin caused by a localised increase in melanin. These patches usually appear on a person with NF1 by the time they are two years old. Most people with NF1 have six or more cafe au lait spots. Having fewer spots but other neurofibromas could be an indicator of having NF2.
- Cancer risk – although most neurofibromas are benign, there is a slightly elevated risk (around 10% over a person’s entire lifetime) that a tumour may become cancerous.
- Epilepsy - According to research, a small percentage of children with NF1 (around 3-7%) also have epilepsy. Around 3% of Australians experience epilepsy at some time in their lives so it appears that NF1 increases that chance.
- Freckles – these harmless spots are common in areas that are frequently exposed to sunlight, but people with NF1 can develop freckles in areas usually shielded, such as their armpits, groin and soles of the feet.
- Learning Disabilities - Around 50% of children diagnosed with NF1 also display some kind of learning or attention disability. This does not mean that children with NF1 have intellectual disabilities, but rather problems with speech, language, concentration, impulse control & the understanding of social cues.
- Lisch nodules – small brown spots that develop in the iris. These spots do not affect vision and can usually only be seen using a specialised eye investigation known as a slit lamp.
- Neurofibromas – these tumours may develop anywhere there are nerves in the body, and mostly present as harmless soft pink lumps. Neurofibromas most frequently appear in adolescence and by around the age of 30. Almost every person with NF1 will have anywhere between a handful and hundreds of neurofibromas. Most of these tumours don’t cause problems, but they do grow with time, so medical intervention may be required for removal. Times of increased hormone production, like adolescence and pregnancy may increase the frequency of neurofibromas.
- Optic Pathway Gliomas (OPG) - These tumours affect the nerves that control vision. Many children who develop OPG never have any overt symptoms of vision loss, but careful monitoring by an ophthalmologist is recommended to avoid any serious problems.
- Plexiform neurofibromas – these are clustered, localised tumours that grow in areas where a tangle of nerves exist within the tissue. Like other neurofibromas, these can occur anywhere in the body and are mostly harmless and present by the time a child with NF1 is two years old. Around 5% of plexiform neurofibromas cause major problems with appearance and require medical intervention for removal. This was the condition affecting the central character in the film, The Elephant Man.
- Scoliosis and shin problems – a small percentage of children with NF1 (around 15%) will develop some degree of curvature of the spine (scoliosis). Most people with this curvature will lead normal lives but some may require surgical correction. A very small number of children with NF1 are born with a weakness on the shin bones that can cause them to bow or break. This condition usually requires specialist treatment.
NF2
Neurofibromatosis type 2 is more rare than NF1, affecting one in 33,000-40,000 people. People with NF2 develop tumours much like those with NF1, but the tumours in people with NF2 often grow on the nerves in the ear that control hearing and balance, often causing variable degrees of hearing loss. These tumours are known as schwannomas and can grow bilaterally (on both sides of the body) simultaneously or at different rates, or in some cases are only present unilaterally (on one side).
In addition to schwannomas growing on auditory and vestibular nerves, these tumours can appear in other places, including the brain and spinal cord, potentially causing problems including:
- Decreased or altered eye movement
- Difficulty swallowing
- Reduced or painful facial sensations
- Speech problems
NF2 is caused by a mutation in a gene on chromosome 22. This gene normally tells cells how to form a protein that halts the growth of tumours. The mutation turns off this instruction allowing tumours to grow. Like NF1, NF2 is a lifelong condition, but unlike the milder condition, NF2 usually presents later in life, usually appearing first in adolescence but often not fully diagnosable until adulthood.
Schwannomatosis
The rarest form of neurofibromatosis affects roughly 1 in 40,000 people and is typified by the growth of multiple schwannomas on the peripheral nerves - 43 pairs of motor and sensory nerves that connect the brain and spinal cord to the rest of the body. When these tumours grow, pressure on the nerves can cause numbness, tingling, limb weakness, bowel dysfunction, difficulty urinating, facial weakness and vision changes, but the most common symptom of Schwannomatosis is extreme pain.
This pain is caused by the tumours exerting pressure on surrounding nerves and usually doesn’t present until later in life.
If you’ve found some lumps and would like to have them diagnosed, the easiest way is to find and book an appointment with a doctor through MyHealth1st.
Treatments for and Living With Neurofibromatosis
There is no cure for any form of neurofibromatosis, and while some drugs can help with symptoms (such as pain medication for people living with Schwannomatosis) there is no medication specifically tailored to helping people with neurofibromatosis.
Most people with NF1 can live normal lives without the need for surgery.
For more information and support for children with neurofibromatosis, the Children’s Tumour Foundation has you covered.