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Neurofibromatosis type 1
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Neurofibromatosis type 1, also called Von Recklinghausen disease, is a neurocutaneous disorder, meaning it affects the nervous system and the skin at the same time. It is inherited and autosomal dominant: receiving the altered copy of the gene from just one parent is enough.
That gene lives on chromosome 17 and is used to make a protein called neurofibromin. Its job is to put the brakes on the RAS pathway, one of the internal routes that tell cells to multiply. Neurofibromin is a brake; without it, the RAS pathway runs unchecked. When the gene is mutated or lost, the features of the disease show up.
The two most recognizable signs are cafe-au-lait spots, flat light brown patches on the skin, and neurofibromas, which are benign tumors that grow on nerves. It also carries a risk of bone abnormalities, of vasculopathy, meaning damage to the blood vessels, and of cognitive impairment.
In brief
Neurofibromatosis type 1, or Von Recklinghausen disease, is an inherited neurocutaneous disorder with autosomal dominant inheritance.
The responsible gene sits on chromosome 17 and encodes neurofibromin, a GTPase-activating protein that puts the brakes on the RAS pathway; mutation or loss of the gene produces the features of the disorder.
Neurofibromin is a brake; without it, the RAS pathway runs unchecked.
Its hallmarks are cafe-au-lait spots and neurofibromas, and the disorder also carries a risk of bone abnormalities, vasculopathy, and cognitive impairment.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingNeurofibromatosis Type 1, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated