lunes, 5 de agosto de 2013

Neurophybromatosis type 1 and vascular risk: outlining a new hypothesis

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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