Patient's question:
My cousin has recently suffered severe skin damage. His skin has developed numerous small, tumor-like bumps arranged densely all over his face, looking very unpleasant. They also feel rough to the touch, and sometimes they even twitch bizarrely, resembling the symptoms of epilepsy. He had a head CT scan at the hospital, and the doctor suspected he might have tuberous sclerosis. What is tuberous sclerosis?Doctor's answer:
According to the patient's description, tuberous sclerosis is primarily characterized by a neurocutaneous syndrome of seizures, intellectual disability, sebaceous adenomas, and retinal tumors. Approximately 60% of affected children have an intellectual disability below normal levels, with the severity ranging from mild to severe and becoming more apparent as they age. Children may also exhibit changes in mental development, such as unreasonable behavior and defiance.