Tuberous Sclerosis

• Tuberous sclerosis is an autosomal dominant genetic condition that affects multiple systems.
• The characteristic feature of tuberous sclerosis is the development of hamartomas, which are benign tissue growths.
• Hamartomas cause problems based on the location of the lesion.
• There is no treatment for the underlying gene defect in tuberous sclerosis, management is supportive and involves monitoring and treating complications, particularly epilepsy.
• Skin features of tuberous sclerosis include Ash leaf spots, Shagreen patches, Angiofibromas, Ungual fibromas, Cafe-au-lait spots, Poliosis, and Neurological features like Epilepsy, Learning disability, Brain tumours.
• Hamartin and tuberin interact with each other to control the size and growth of cells.
• Tuberous sclerosis is caused by mutations in either TSC1 gene on chromosome 9, which codes for hamartin, or TSC2 gene on chromosome 16, which codes for tuberin.
• Abnormalities in one of these proteins lead to abnormal cell size and growth.
• In specific circumstances, mTOR inhibitors such as everolimus or sirolimus may be used to suppress the growth of brain, lung or kidney tumours.
• Tuberous sclerosis commonly affects the skin, brain, lungs, heart, kidneys, eyes, and can cause features such as Ash leaf spots, Shagreen patches, Angiofibromas, Ungual fibromas, Cafe-au-lait spots, Poliosis, and Neurological features like Epilepsy, Learning disability, Brain tumours.