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Sturge Weber Syndrome

Sturge Weber Syndrome

Shown here is a congenital port wine stains (nevus flammeus) which is seen in sturge weber syndrome.Sturge Weber Syndrome is a sporadic neurocutaneous disorder characterized by congenital port wine stains (aka nevus flammeus) classically in V1(ophthalmic distribution from trigeminal nerve) though may involve other distributions as well. Sturge weber syndrome can be associated with ipsilateral leptomeningeal capillary-venous malformation, or pheochromocytomas. Complications are glaucoma, seizures, hemiparesis, and mental retardation.Recent studies suggest that the reason behind this syndrome is a somatic mutation in GNAQ.

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