Abstract and Introduction Clinical Features of Tuberous Sclerosis Complex Genetics of Tuberous Sclerosis Diagnosis of Tuberous Sclerosis Complex by DNA Analysis References Hypomelanotic macules (ash ...

The name is derived from the Latin and Greek terms “tuber”, which means swelling, and “skleros”, which means hard. The “tubers” were first discovered in the brains of patients and were recorded in ...

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder with a prevalence of 1 in 6000 to 9000 people. Although a positive family history of tuberous sclerosis complex is ...

Little is known about sex-specific manifestations of tuberous sclerosis complex. Inactivating mutations in the TSC1 and TSC2 genes cause tuberous sclerosis complex, and recent evidence points to a ...