Neurofibromatosis Type 1 (NF1) - Inherited disorder primarily affecting the brain and skin - Characterized by cafe au lait spots, neurofibromas, and Lisch nodules
Neurofibromatosis Type 2 (NF2) - Autosomal dominant mutation in NF2 tumor suppressor gene - Presents with bilateral acoustic neuroma and characteristic appearance of cerebellum
Sturge-Weber Syndrome - Congenital abnormality of small blood vessels - Vascular malformations on face, port-wine stain is a key feature - Can cause seizures, intellectual disability, early onset glaucoma
Tuberous Sclerosis - Mutations in TSC1 and TSC2 tumor suppressor genes - Skin findings: ash leaf spots & shagreen patches - Small benign tumors throughout body; can lead to intellectual disability & seizures