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Neurocutaneous Disorders

Tuberous Sclerosis
»	Tuberous sclerosis is also known as epiloia. What does this term mean?
»	What is the inheritance of tuberous sclerosis?
»	Where are the genetic defects for tuberous sclerosis?
»	What is the earliest skin sign of tuberous sclerosis?
»	Adenoma sebaceum is a misnomer. What is the correct term for the facial lesions seen in tuberous sclerosis?
»	What are Koenen’s tumors?
»	What is a shagreen patch?
»	What are tubers, and where do they occur?
»	What signs of tuberous sclerosis may be revealed on funduscopic examination?
»	Which cardiac abnormality is characteristic of tuberous sclerosis?
»	Can renal involvement occur in tuberous sclerosis?
»	What is the prognosis for patients with tuberous sclerosis?

Where are the genetic defects for tuberous sclerosis?

Genetic linkage studies of familial cases have demonstrated two separate genes linked to tuberous sclerosis: TSC 1, located at chromosome 9q34, encoding a protein called hamartin, and TSC 2, located at chromosome 16p13.3, encoding a protein called tuberin.

Narayanan V: Tuberous sclerosis complex: genetics to pathogenesis, Pediatr Neurol 29:404–409, 2003.
Curatolo P, Bombardieri R, Jozwiak S: Tuberous sclerosis, Lancet 372:657–668, 2008.