What is the primary clinical feature of Tuberous Sclerosis?

Tuberous Sclerosis is primarily characterized by the presence of hamartomas, which are benign tumors that can develop in various tissues throughout the body. These hamartomas are a direct result of genetic mutations associated with the condition, typically in the TSC1 or TSC2 genes. They can affect multiple organ systems, particularly the brain, skin, kidneys, and lungs, leading to a variety of clinical manifestations.

In the context of Tuberous Sclerosis, these hamartomas may present as facial angiofibromas on the skin, cortical tubers in the brain, and renal angiomyolipomas in the kidneys. This diverse spectrum of hamartomatous lesions is fundamental to the diagnosis and management of Tuberous Sclerosis. While seizures are common and can occur as a result of the brain lesions associated with the condition, they are considered a secondary feature rather than the primary clinical manifestation. The same can be said for neurofibromas and vestibular schwannomas, which are characteristic of other genetic disorders and not specific to Tuberous Sclerosis. Therefore, hamartomas stand out as the definitive clinical feature of this condition.