Neurofibromatosis type 1 (NF1)
Overview
Neurofibromatosis type 1 (NF1) is a genetic condition where tumours grow on the nerves and skin. There’s currently no cure, but treatment can help manage your symptoms.
Symptoms
The symptoms of neurofibromatosis type 1 (NF1) are often mild. But some people have symptoms that cause problems. How severe the symptoms are usually depends on where the tumours are in your body and how big they are. Many of the symptoms are there from birth or start during early childhood, but some do not appear until later. Symptoms of NF1 can include: light brown patches of skin (café-au-lait spots) – these may be harder to see on brown and black skinfreckles in your armpits or around the tops of your legslumps on or just under your skin (neurofibromas) that can be painful or itchy – these tend to appear during the teenage years or early 20syellow-brown raised dots on the coloured part of your eye (iris) that do not usually affect visioneye problems, such as asquint, reduced vision, or a bulging eye (which can sometimes cause further symptoms like headaches or feeling and being sick)a large head and below average heightlearning difficulties Your symptoms and how severe they are can change over time. It’s important to tell your doctor about any new symptoms or changes to existing symptoms.
Causes
Neurofibromatosis type 1 (NF1) is caused by an altered gene. Sometimes the altered gene is passed on to a child by one of their parents (inherited). But sometimes a child can be born with NF1 even if their parents do not have the altered gene. If you have NF1, there's a 1 in 2 (50%) chance of passing the affected gene on to any children you have.
Treatment
There’s currently no cure for neurofibromatosis type 1 (NF1), but there are treatments that can help manage the symptoms and any complications. You'll be supported by different healthcare professionals. This may include a brain specialist (neurologist), an eye specialist (ophthalmologist) and a skin specialist (dermatologist). Children will also be under the care of a doctor who specialises in the treatment of children (paediatrician). Treatment will depend on your symptoms and may include: medicine to stop tumours growingsurgery to remove tumours that are at risk of causing problemsusing a beam of radiation to treat small tumours or pieces of a larger tumour that are left after surgery (radiotherapy) If your symptoms are not causing any problems, your doctor may suggest waiting to see if any problems develop before starting treatment.