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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
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.
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.
Tumours
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.
Ref 18
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).
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.
pseudoarthrosis. A false joint. This can happen when a broken bone does not heal
properly.
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