Question
I have had scattered nodules on my face and a circular white spot on my forehead the size of a fingernail for 7-8 years. The frequency and severity of symptoms vary with the age of onset. What are the main symptoms and manifestations?
Answer
The symptoms of this condition are mainly in four aspects: intellectual disability, seizures, skin damage, and tumors in various organs including the brain. Intellectual disability and seizures occur more frequently, with skin damage manifested as sebaceous adenomas, white spots, periungual fibromas, and granular spots. Tumors in various organs are less common in the brain, but retinoblastoma and retinal opacity or cystic nodules are relatively common. In addition, multiple endocrine abnormalities have been found in patients with this condition.