Cutaneous lesions and visceral involvement of tuberous sclerosis

Background Tuberous sclerosis (TS) is an autosomal dominant disorder with a significant range of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart and lung is the main cause of death in patients with TS. The aim of this study is to summarize the charateristic cutaneous features and common extracutaneous involvement of TS, which are helpful to the early detection of visceral involvement.Methods The analyzed clinical data from 78 patients with TS included those from detailed history, physical and dermatological examination, cranial computed tomography (CT) and magnetic resonance imaging (MRI),abdominal uhrasonography, chest roentgenography, hand and foot X-ray and ophthalmologic examination.Results The skin, brain and kidney were involved frequently in TS patients. Hypomelanotic macules were the most common and earliest cutaneous lesions. Their number was more than 3 in 81.5% of the patients. They were followed by facial angiofibromas and Shangreen's patch in a decreasing frequency. Forehead plaque, facial angiofibromas and Shagreen's patch appeared in patients at mean age of 2.6, 6.0 and 8. 1 years respectively.Cranial CT showed a high positive rate in TS patients.Conclusions Cutaneous features of TS are helpful in the early diagnosis of the disease. Hypomelanotic macules are especially important for patients with epilepsy or babies whose number of hypomelanotic malues is more than 3. Cranial CT is of great value in the diagnosis of TS. The involvement of visceral organs such as the brain and kidney should be examined in TS Patients.