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Neurophybromatosis type 1 and vascular risk: outlining a new hypothesis

Neurophybromatosis type 1 and vascular risk: outlining a new hypothesis

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Published by iMedPub
Background: The neurofibromatosis of type 1 (Von Recklinghausen disease)
-NF1- belongs to the genetic disorder group known as phakomatosis. Its inheritance
pattern is dominant autosomal with variable penetrance. It is produced by
the mutation of the gene NF1 of the chromosome 17q (tumour supresor gene
which encodes a protein -neurofibromine- which modules the transduction of
signals through the guanosin triphosphatase path -GTPase-). It’s characterized by
the presence of benign tumors from the peripheral nerves which are nominated
neurophybromas (they are compounded by the proliferation of Schwann cells and
phybroblasts), pigmented skin lesions (“café au lait spots“), freckles on unexposed
areas like the armpits, iris hamartomal (Lisch’s nodules) and seudoarthrosis of the
tibia [1, 2]. It has been described that the patients with NF1 can present neurovascular
abnormalities which tend to brain ischemia [3], although this uncommon
association is not well characterized.
Background: The neurofibromatosis of type 1 (Von Recklinghausen disease)
-NF1- belongs to the genetic disorder group known as phakomatosis. Its inheritance
pattern is dominant autosomal with variable penetrance. It is produced by
the mutation of the gene NF1 of the chromosome 17q (tumour supresor gene
which encodes a protein -neurofibromine- which modules the transduction of
signals through the guanosin triphosphatase path -GTPase-). It’s characterized by
the presence of benign tumors from the peripheral nerves which are nominated
neurophybromas (they are compounded by the proliferation of Schwann cells and
phybroblasts), pigmented skin lesions (“café au lait spots“), freckles on unexposed
areas like the armpits, iris hamartomal (Lisch’s nodules) and seudoarthrosis of the
tibia [1, 2]. It has been described that the patients with NF1 can present neurovascular
abnormalities which tend to brain ischemia [3], although this uncommon
association is not well characterized.

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Published by: iMedPub on Aug 06, 2013
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10/14/2013

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