Tuberous sclerosis

This code represents tuberous sclerosis complex (TSC), a rare, multisystem genetic disorder characterized by the growth of benign tumors in various organs, including the brain, kidneys, heart, eyes, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes, leading to dysregulation of cell growth and proliferation.

Use this code when documentation confirms a diagnosis of tuberous sclerosis, often presenting with neurological manifestations like epilepsy or developmental delay, or dermatological findings such as angiofibromas or hypomelanotic macules. Supporting documentation typically includes genetic testing results, imaging studies (e.g., MRI of the brain, CT of the abdomen), and clinical examination findings consistent with TSC.

• Always review documentation for specific manifestations of TSC (e.g., epilepsy, renal angiomyolipomas) and code them additionally to provide a comprehensive clinical picture.
• Distinguish from other neurocutaneous syndromes like neurofibromatosis, which have different genetic bases and clinical presentations.
• Ensure the diagnosis is definitively established, as this is a chronic, lifelong condition with significant implications for patient care.