- An autosomal-dominant, neurocutaneous, multi-system disorder characterised by cellular hyperplasia, tissue dysplasia, and multiple organ hamartomas.
- The primary recognised neurocutaneous features include dental pits, hypopigmented macules (ash leaf spots), facial angiofibromas, and ungual fibromas.
- The most often identified clinical presentations are epilepsy (infantile spasms), autism and cognitive impairment, and neonatal cardiac rhabdomyomas.
- Cardiac rhabdomyomas regress in early childhood and are generally asymptomatic, whereas renal angiomyolipomas and giant cell astrocytomas progress in adolescence and adulthood. The renal complications are second only to the CNS complications as a cause of significant morbidity.
- Lymphangioleiomyomatosis of the lung associated with tuberous sclerosis is unique in that it is identified in females only and arises from metastases from renal angiomyolipomas.
Last updated: Jul 18, 2012