Abstract: In order to familiar the characteristic cutaneous manifestation and common extracutaneous involvement of tuberous sclerosis(TS), which faciliate the clinicians to diagnose correctly and detect important visceral involvement earlier, 20 patients with TS were studied, including physical and dermatological examination, cranial CT, abdominal ultrasonography, chest X-ray, hand and foot X-ray and ophthalmological examination. The results showed that skin, brain and kidneys were involved frequently in TS patients. The hypomelanotic macules were the most common and earliest in the cutaneous lesions and often led to misdiagnosis. Cranial CT was of great value in the diagnosis of TS. The authors recommend that clinicians have to pay attention to the hypomelanotic macules in the patients especially with epilepsy. The involvement of visceral organs should also be examined and followed up in TS patients.

Key words: Tuberous sclerosis