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Neurofibromatosis Type 1

What is Neurofibromatosis Type 1?

Neurofibromatosis is an inherited genetic disorder. A genetic disorder is caused by one or
more changed genes.There are at least two types of neurofibromatosis. Neurofibromatosis
Type 1 (abbreviated to NF1) is the most common form, affecting about 1 person in every
4000 in the United Kingdom. This information refers to Neurofibromatosis Type 1
(sometimes also called Von Recklinghausens disease).

What are genes?

Our bodies are made up of millions of cells. Each cell contains a complete set of genes.
We have thousands of genes. We each inherit two copies of most genes, one copy from
our mother and one copy from our father. Genes act like a set of instructions, controlling
our growth and how our bodies work. Any alteration in these instructions is called a
mutation (or change). Mutations (or changes) can stop a gene from working properly. A
mutation (change) in a gene can cause a genetic disorder. Genes are responsible for
many of our characteristics, such as our eye colour, blood type or height.

What gene causes Neurofibromatosis Type 1?

Everyone who has Neurofibromatosis Type 1 has a change (mutation) in the same gene.
Medical research suggests that, as a result of changes (mutations) in the gene that causes
Neurofibromatosis type 1, some of the bodys cells grow out of control. It is this growth that
cause the problems associated with Neurofibromatosis type 1.

What are the main features of Neurofibromatosis type 1?

Neurofibromatosis Type 1 has characteristic features. A doctor may make a diagnosis of
Neurofibromatosis Type 1 when one or more of these features are present. These features

Caf-au-lait spots
These are flat, pale coffee-coloured patches on the skin. Up to 10% of people who do
not have Neurofibromatosis type 1 have one or two of these spots. People with
Neurofibromatosis type 1 typically have many spots (but at least six spots). In
Neurofibromatosis type 1, caf-au-lait spots usually begin to appear during a babys
first year of life and gradually grow in size and number. Freckling in unusual places
such as the armpit or groin is also very common in Neurofibromatosis type 1.

Neurofibromas are small, harmless (benign) lumps usually first noticed on the skin.
They are made of nerve cells and tough fibres. They usually begin to appear during the
time of rapid growth and development around ages 12 to 18 years and they tend to
increase in number throughout life. The number of neurofibromas varies widely in
people with Neurofibromatosis type 1, from only a few to several hundred. Some people
may have much larger lumps which are more spread out and are called plexiform
neurofibromas. These lumps tend to merge with the surrounding tissue, making them
difficult to remove completely. Plexiform neurofibromas may be present at birth or may
appear during early childhood.

Lisch Nodules
These are small lumps on the iris, the coloured part of the eye, which are very common
in people with Neurofibromatosis type 1. They are not usually obvious without
magnification and never cause problems. However, they are very useful for confirming
that someone has the condition.
People with Neurofibromatosis type 1 tend to be a little shorter than unaffected family
members, and they tend to have slightly larger head size.
Neurofibromatosis type 1 is a very variable condition and some affected people may have
no features other than the caf-au-lait spots. People like this may discover that they have
Neurofibromatosis type 1 only after the condition is diagnosed in a family member.

How is Neurofibromatosis type 1 diagnosed?

Neurofibromatosis type 1 is diagnosed after a thorough physical examination by a
specialist doctor. If someone is suspected of having Neurofibromatosis type 1, careful eye
examination by an ophthalmologist (a specialist eye doctor) is often required, to check for
Lisch nodules.
Neurofibromatosis type 1 can be difficult to diagnose in children under five, but the features
of the condition become more obvious with age.

What medical problems are associated with Neurofibromatosis type 1?

Most people with Neurofibromatosis type 1 do not experience problems as a result of the
condition. However, about one third of affected people will develop one or more
complications during their lifetime (see below). Unfortunately, it is difficult to predict who will
experience these problems, and this uncertainty can be stressful. Since the complications of
Neurofibromatosis type 1 respond well to early treatment, everyone who has the condition
should have a yearly check-up by a doctor. Affected people who are worried about a new or
unexplained symptom should ask their doctor to check whether it is connected with
Neurofibromatosis type 1.

High blood pressure (hypertension)

High blood pressure is common in Neurofibromatosis type 1 and may develop at any
age. It is important to detect high blood pressure, since it is easily treated, and it may go
on to cause problems in later life if not treated. In most cases, no obvious cause is
found. Very occasionally, the high blood pressure is caused by narrowing of the blood
vessels to the kidney (renal artery stenosis,) or by a phaeochromocytoma ,an abnormal
growth (or tumour) of the adrenal gland. Both renal artery stenosis and
phaeochromocytoma can be treated surgically.

Learning difficulties
About one third of children with Neurofibromatosis type 1 have specific learning
difficulties, including problems learning to read and write or problems doing
mathematics. These difficulties are not usually severe. If teachers and parents are
aware of these potential problems, then the necessary help can be arranged as early as
possible to overcome them. Hyperactivity and clumsiness are also more common in
children with Neurofibromatosis type 1. Only a very small number (1-2%) of people with
Neurofibromatosis type 1 have severe learning difficulties.

A small number of people with Neurofibromatosis type 1 may have abnormal growths
(tumours) in and around the brain and spinal cord. These tumours are usually benign
and do not spread to other parts of the body. When these tumours arise on the spine
(backbone), they can occasionally cause pain, weakness or numbness in the legs or
arms. Tumours growing on the optic nerve (the nerve that signals from the eye to the
brain) may cause a squint, double vision or blurred vision.
A small number of individuals with Neurofibromatosis type 1 develop malignant (or
cancerous) tumours as a result of the condition and this knowledge can be worrying to
patients. It is important to realise that the risk is low (around 5% or 1 in 20) that a person
with the condition will develop a cancer which is definitely related to Neurofibromatosis
type 1. If you notice a lump growing rapidly or becoming unusually painful, you should
consult your doctor.

Bone problems
People with Neurofibromatosis type 1 can develop curvature of the spine or backbone.
This is called scoliosis. It usually occurs in the early teens and may be only mild. If the
curve becomes more serious, it may require treatment with a brace or an operation.
Occasionally children are born with bowing of the bones in the lower leg. These bones
tend to break easily and healing may be slow or incomplete. Incomplete healing may
result in a condition called pseudoarthrosis which means false joint.

Can Neurofibromatosis type 1 be treated?

There is no cure for Neurofibromatosis type 1. However, early treatment of some problems
can minimise and sometimes prevent complications. Children with Neurofibromatosis type
1 should have their height measured and their eyes, spine (backbone) and blood pressure
checked once a year. Adults with Neurofibromatosis type 1 should also have their blood
pressure checked once a year.

How is Neurofibromatosis type 1 inherited?

Everybody has two copies of the Neurofibromatosis type 1 gene, but a person only has to
have one changed copy of the gene to develop the disorder. The normal copy cannot
compensate for the effects of the copy with the change (mutation). When people who have
a Neurofibromatosis type 1 gene with a mutation (change) have children, they can pass on
either their normal copy of the gene or their changed copy. This means there is a 1 in 2, or
50% chance of their child inheriting the gene with the change (mutation). There is also a 1
in 2 or 50% chance of their child inheriting the normal copy of the gene.
In some cases, a person with Neurofibromatosis type 1 is the only person affected in his or
her family. In these cases, one of the parents may be so mildly affected that they do not
realise that they have the condition. If the parents are examined and are found not to have
Neurofibromatosis type 1, then the change (mutation) in the gene has probably occurred
for the first time in their child. This happens in 25-50% of cases with Neurofibromatosis
type 1. When this does happen, the parents are unlikely to have another child with
Neurofibromatosis type 1.

Is there a specific test for Neurofibromatosis type 1?

The gene that causes Neurofibromatosis type 1 is known and a genetic test is available to
find out whether someone has the gene with the mutation (change) or not. Usually, the
diagnosis of Neurofibromatosis type 1 can be made by physical examination by a
specialist doctor. In some families, it may be possible to test a baby during pregnancy
(prenatal diagnosis). Families wishing to consider this should be referred to a clinical

Where can I get more information about Neurofibromatosis type 1?

This is only a brief guide to Neurofibromatosis type 1. More information can be obtained
from your local regional genetics centre or from these addresses:
The Neurofibromatosis Association
Quayside House
38 High St
Kingston upon Thames
Tel: 020 8439 1234
The Genetic Interest Group
Unit 4D,
Leroy House,
436 Essex Rd.,
London, N1 3QP
Telephone: 020 7704 3141
Contact a Family
209-211 City Rd.,
Telephone: 020 7608 8700 FAX: 020 7608 8701
Helpline 0808 808 3555 or Textphone 0808 808 3556
(Freephone for parents and families, 10am-4pm, Mon-Fri)
This edition prepared in July 2005

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Glossary (difficult words and their meanings): Neurofibromatosis Type 1

This glossary is intended only to explain terms used in the information: Neurofibromatosis
Type 1. Words shown in bold are defined elsewhere in the glossary.

adrenal gland. A part of the body which helps to control our responses to stress.
benign. Not cancerous, not malignant. Not usually a danger to health or life.
bowing. An outward curve or bend in the shape of the legs.
brace. A device worn to help to straighten the bones of the spine.
caf-au-lait spots). These are flat, pale coffee-coloured patches on the skin.
cancerous. Involving abnormal growth of cells.
cell . The human body is made up of millions of cells, which are like building blocks. There
are many specialised types of cells. These include skin cells, brain cells, and blood cells.
Cells in different parts of the body look different and do different things. Every cell (except
for eggs in women and sperm in men) contains all the bodys genes.

gene. Information needed for the body to work, stored in a chemical form. Changes or
mutations in genes alter the information and this can change how the body works. Most
genes are in pairs: one from the mother, one from the father. (As an analogy: a gene is like
a story in a book, a change or mutation in a gene is like a missing or extra letter in a word
in the story).

genetic. Caused by genes, concerning genes.

hyperactivity. Over-activity.
hypertension. High blood pressure.
iris. The coloured part of the eye.
Lisch Nodules. Very small lumps on the iris. They are very common in people who
have Neurofibromatosis type 1.

malignant. Tending to grow and spread progressively; cancerous, harmful without


mutation. A change in a gene. Some mutations are not harmful. Sometimes when a
gene is changed, its information is altered so it does not work properly. (As an analogy: a
change or mutation in a gene is like a missing or extra letter in a word in a story).

nerve. A connection between the body and the brain (like an electric wire). Nerves carry
important information from the brain to the body and from the body to the brain.

neurofibromas. Lumps inside the body or in the skin. They are benign and are made
of nerve cells and tough fibres.

neurofibromatosis. A disorder in which affected people have many neurofibromas.

ophthalmologist. A specialist eye doctor.
optic nerve. A nerve that goes from the back of the eye to the brain. It sends signals to
the brain about what the eye can see.

phaeochromocytoma. A tumour of the adrenal gland.

plexiform neurofibromas. Large neurofibromas.
prenatal diagnosis . Test during a pregnancy for the presence or absence of a genetic
disorder in the baby.

pseudoarthrosis. A false joint. This can happen when a broken bone does not heal

renal artery stenosis. Narrowing of the blood vessel that takes blood to the kidney.
scoliosis (also known as curvature of the spine). A sideways curve in the spine.
spine. The backbone. The series of bones in the middle of the back.
tumour. An abnormal growth of cells, can be benign or malignant.
Von Recklinghausens disease. Another name for Neurofibromatosis type 1.
This glossary is intended only for use by patients and families, with the genetic
information to which it refers.
This edition prepared in July 2005

Ref Glossary 18