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Want to support the channel? Be a patron at: / lymed Welcome to LY Med, where I go over everything you need to know for the USMLE STEP 1, with new videos every day. Follow along with First Aid, or with my notes which can be found here: https://www.dropbox.com/sh/8uams03zbp... In this neuro pathology video, we will go over the neurocutaneous syndromes. This is a group of disorders that affect the brain and skin. Why is this so? Well recall they both come from the ectoderm! The first one is Sturge Weber Syndrome, or encephalotrigeminal angiomatosis. This is a mutation in GNAQ, and causes mutations in your blood vessels. Skin manifestations will show up as a port wine stain on the distribution of the trigeminal nerve (face). In the brain, there are angiomas (leptomeningeal angiomas) which can cause seizures. Other manifestations include hemangiomas in the eye (episcleral) causing glaucoma. The next one in this topic will be tuberous sclerosis. This is a autosomal dominant mutation in your TSC 1/2 gene that are tumor suppressors. Skin manifestations include angiofibromas, ash leaf spots, Shagreen patches. Brain pathologies include astrocytomas. Other manifestations include cardiac rhabdomyomas, renal angiomyolipomas. Our third syndrome is neurofibromatosis. This is separated into two different types: type 1 include cafe-au-lait spots, neurofibromas, optic gliomas, and astrocytomas. Other manifestations include pheochromocytoma, and pigmented hamartomas of the iris. Type 2 involves acoustic neuromas, which can affect cranial nerve VIII and cause deafness. The last one is Von Hippel–Lindau disease (or VHL). This particularly affects vascular tissue, causing hemangiomas of the skin, hemangioblastomas, renal cell carcinomas, and pheo. Done with that!