tuberous sclerosis
Last reviewed 07/2023
Tuberous sclerosis is a congenital disease characterised by hamartomatous lesions in the skin, nervous system and internal organs, principally heart and kidney.
It is dominantly inherited but many cases result from new mutations.
The most frequent presentation is a triad of:
- adenoma sebaceum:
- actually an angiofibroma with passive involvement of sebaceous glands
- epilepsy
- mental retardation