
Phakomatosis Tuberous Sclerosis
📋Overview
Phakomatosis Tuberous Sclerosis is a legacy term referring to Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by the growth of benign tumors in multiple organs including the brain, skin, kidneys, heart, and lungs. It is caused by mutations in either the TSC1 or TSC2 genes, leading to dysregulation of cell growth and differentiation. The modern preferred term is Tuberous Sclerosis Complex.
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