Hello, in this HealthSketch, we want to talk to you about Neurofibromatosis.
It’s a bit hard to say, but the name makes sense: “Neuro” means the nerves in the body,
while “fibromas” are the lumps that occur with the condition.
There are different types of Neurofibromatosis, and in this video we’ll be talking about
the most common type, NF1, which approximately one in every 2700 people are born with.
It is caused by a change in your genes, which is either inherited from a parent,
or a new random change in the cells that create a baby.
This genetic change causes lumps to grow on the nerves.
A number of different criteria are used to help diagnose NF1,
and genetic testing may also be used.
The most noticeable signs appear on the skin,
which might be present at birth, or may develop in early childhood:
Flat, light brown patches on the skin, called
“café au lait” spots, or ‘CALS’ because they are a similar colour to milky coffee.
They are often dismissed as just birthmarks.
Freckles in unusual places such as the armpits or groin.
Lumps or bumps, either on or under the skin, which vary in size and number.
Small lumps called cutaneous neurofibromas
are generally harmless and there may be few or many.
Large lumps, called plexiform neurofibromas, tend to be few in number
and are more likely to cause problems.
Doctors can advise if removal or medication is possible.
It’s important to know that NF1 affects everyone differently.
Whilst some will have only mild symptoms, NF1 varies so much
that others may have serious complications and additional related conditions.
These might include:
Learning difficulties, autism or ADHD:
which will probably require more support in school
Problems with the joints and the bones,
such as hypermobility, fractures, curving of the legs or spine,
and changes to the shape of the chest wall.
Problems with eyesight, if the nerve to the eye is affected
High blood pressure which can be a sign of other complications
Epilepsy and other symptoms that relate to the nervous system
Disfigurement, which may or may not cause anxiety and impact on quality of life
In some cases, tumours such as brain and breast cancer
Because of this risk of complications, and because NF1 can change over time,
it is important to report new or changing symptoms to your doctor so that problems can be picked up early.
You should also have a routine check-up at least every year with someone who knows about the condition.
Further tests may be required, such as an imaging test,
and there may be treatments for specific problems, such as surgery.
Depending on the symptoms experienced, a team of professionals might be involved in care,
such as a paediatrician, geneticist, neurologist, dermatologist, eye specialist, bone specialist,
oncologist, psychologist, and others.
It is common to sometimes feel worried or upset about having NF1 or having a child with NF1,
and you should discuss these feelings with your doctor.
Online support groups are a good source of support,
as you can connect to others who have had similar experiences.
While there is no cure for NF1,
and in some cases it can lead to serious complications and reduced life expectancy,
with regular check-ups and appropriate care, many people with NF1 can lead fulfilling lives.
In this HealthSketch, we’ve talked about Neurofibromatosis Type 1,
a genetic condition that causes lumps to grow on the nerves.
We’ve talked about why it occurs,
the main signs,
the more serious problems to be aware of,
and how it is managed.
We hope this HealthSketch has been helpful to you and those around you.