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Phakomatoses

NF1: Neurofibromatosis type 1 - AD, Chromosome 17, 1:5.000 - Cafe Au Lait Spots - Neurofibromas - Optic Nerve Gliomas - Hamartomas, gliosis - Bone dysplasias - Vascular dysplasias NF2: Neurofibromatosis type 2 MISME - MISME: Multiple Inherited Schwannomas, Meningiomas, Ependymomas - 1:40.000, AD, Chromosome 22 - few skin manifestations - Bilateral Acustic Schwannomas - Meningiomas - Ependymomas Tuberous Sclerosis - 1:12.000, AD, Chromosome 9 - Seizures, Mental Retardation, Adenoma Sebaceum, Ash leaf spots - SEGA: Subependymal Giant Cell Astrocytoma - AML: AngioMyoLipomas of the kidney - LAM: Lymphangiomyomatosis - Cortical tubers, subependymal nodules (hamartomas) - Gray matter heterotopias - Cardiac Rhabdomyoma - Adenoma of the liver - Skeletal cysts Sturge Weber - a.k.a Encephalotrigeminal Angiomatosis, 1:50.000, no clear pattern of inheritance - Facial port wine stain - Paraplegia, hemiatrophy - Seizures, Mental retardation, Visual field defects - Retinal Telenagiectasias (hemorrhage and glaucoma) - Leptomeningeal venous angiomas lead to cortical calcifications - Possible Dyke-Davidoff-Mason - Visceral angiomas Von-Hippel Lindau - 1:36.000, Chromosome 3 - CNS Hemangioblastomas - Retinal Hemangioblastomas and angiomas - Pheochromocytoma - Renal cell carcinoma 50% - Cysts in any visceral organs