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Neurofibromatosis 1 (NF1), also
called von Recklinghausen NF or
Peripheral NF, is the common form of
NF, characterized by multiple
cafe-au-lait spots and neurofibromas
on or under the skin. Enlargement
and deformation of bones and
curvature of the spine (scoliosis)
may also occur. It can affect nerves
throughout the body, and
occasionally, tumours may develop in
the brain , on cranial nerves, or on
the spinal cord.
To be given the diagnosis of NF1, an
individual must have at least two of
the following features. Some people
with NF1 have only two, while others
can have many of these features:
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A distinctive osseous
lesion such as sphenoid
wing dysplasia or
thinning of the cortex
of the long bones.
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A first-degree relative
with NF1 by the above
criteria.
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Also, over 50% of
patients with NF1 have
academic learning
disabilities, making
early diagnosis of the
disease and intervention
even more crucial.
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