Tuberous Sclerosis


Adenoma Sebaceum

Bourneville Disease

Bourneville Phacomatosis

Bourneville Phakomatosis

Bourneville Pringle Disease

Bourneville Pringle's Disease

Bourneville Syndrome

Bourneville's Disease

Bourneville's Syndrome

Bourneville-Pringle Disease

Bourneville-Pringle's Disease

Bourneville-Pringles Disease

Cerebral Scleroses

Cerebral Sclerosis

Disease, Bourneville-Pringle

Disease, Bourneville-Pringle's


Phacomatosis, Bourneville

Phakomatosis, Bourneville

Sclerosis Tuberosa

Sclerosis, Cerebral

Sclerosis, Tuberose

Sclerosis, Tuberous

Syndrome, Bourneville

Syndrome, Bourneville's

Tuberose Sclerosis

Tuberous Sclerosis Complex

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.