NF is a neurocutaneous disorder meaning that it affects the skin and the nervous
system (including the brain). Soft, non-cancerous tumours (neurofibromas) develop
on the skin and along nerve tissue throughout the body. However, virtually every
system and organ in the body may be affected. .
Symptoms of Neurofibromatosis
There are two main types, NF1 (also known as Von Recklinghausen's disease or peripheral
NF) and NF2 (also known as bilateral acoustic NF). NF1 is much more common.
symptoms usually appear in early childhood. A telltale sign is the presence of coffee-coloured
birthmarks known as 'cafe-au-lait' spots. They are present at birth but increase
in size, number and pigmentation, especially during the first few years of life.
(soft, small rubbery lesions) typically appear during adolescence. Usually they involve
the skin but they may appear along nerves and blood vessels. They can cause problems
if they squash a nerve (for example, problems with vision and hearing).
that can occur, include high blood pressure, curvature of the spine, kidney problems,
large head, short stature, epilepsy and speech problems. Some affected children have
learning difficulties. There is also an increased risk of certain cancers.
much more rare. Cafe-au-lait spots and skin neurofibromas are much less common in
NF2. Bilateral acoustic neuromas are the most distinctive feature of NF2.
grow on the acoustic nerve, leading to symptoms of hearing loss, facial weakness,
headache or unsteadiness. (Bilateral means that it affects both sides.).
the condition presents in childhood although occasionally it may present in your
20s. There is also an increased risk of certain cancers in NF2. Causes
About one in 4000 babies born in the UK has NF1 and about one in every 50,000 has
NF2. Men and women are equally affected.
The abnormal gene may be inherited from one parent who has NF or may arise from a
spontaneous gene mutation. Both forms of NF are inherited in an autosomal dominant
fashion, meaning that if you have the disease you have a 50% chance of passing it
on to each of your children. Many cases are new mutations
There's no cure for NF but the Neurofibromatosis Association is optimistic that there
will be an effective treatment within the next five to ten years. For families with
NF, genetic screening and counselling is available.
Most people don't need any treatment
but surgery may be necessary to remove some tumours (such as acoustic neuromas or
brain tumours) and this can cause complications such as facial paralysis.
for complications such as epilepsy is given as appropriate. Vision and hearing are
regularly tested. Special education is provided for those children with learning