Tuberous sclerosis (TS) is an autosomal dominant disorder with a significantrange of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart andlung is the main cause of death in patien...Tuberous sclerosis (TS) is an autosomal dominant disorder with a significantrange of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart andlung is the main cause of death in patients with TS. The aim of this study is to summarize thecharateristic cutaneous features and common extracutaneous involvement of TS, which are helpful tothe early detection of visceral involvement. The analyzed clinical data from 78 patients with TSincluded those from detailed history, physical and dermatological examination, cranial computedtomography ( CT) and magnetic resonance imaging ( MRI) , abdominal ultrasonography, chestroentgenography, hand and foot X-ray and ophthalmologic examination. The skin, brain and kidney wereinvolved frequently in TS patients. Hypomelanotic macules were the most common and earliestcutaneous lesions. Their number was more than 3 in 81. 5% of'the patients. They were followed byfacial angiofibromas and Shangreen' s patch in a decreasing frequency. Forehead plaque, facialangiofibromas and Shagreen's patch appeared in patients at mean age of 2. 6, 6. 0 and 8. 1 yearsrespectively. Cranial CT showed a high positive rate in TS patients . Cutaneous features of TS arehelpful in the early diagnosis of the disease. Hypomelanotic macules are especially important forpatients with epilepsy or babies whose number of hypomelanotic malues is more than 3. Cranial CT isof great value in the diagnosis of TS. The involvement of visceral organs such as the brain andkidney should be examined in TS patients.展开更多
文摘Tuberous sclerosis (TS) is an autosomal dominant disorder with a significantrange of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart andlung is the main cause of death in patients with TS. The aim of this study is to summarize thecharateristic cutaneous features and common extracutaneous involvement of TS, which are helpful tothe early detection of visceral involvement. The analyzed clinical data from 78 patients with TSincluded those from detailed history, physical and dermatological examination, cranial computedtomography ( CT) and magnetic resonance imaging ( MRI) , abdominal ultrasonography, chestroentgenography, hand and foot X-ray and ophthalmologic examination. The skin, brain and kidney wereinvolved frequently in TS patients. Hypomelanotic macules were the most common and earliestcutaneous lesions. Their number was more than 3 in 81. 5% of'the patients. They were followed byfacial angiofibromas and Shangreen' s patch in a decreasing frequency. Forehead plaque, facialangiofibromas and Shagreen's patch appeared in patients at mean age of 2. 6, 6. 0 and 8. 1 yearsrespectively. Cranial CT showed a high positive rate in TS patients . Cutaneous features of TS arehelpful in the early diagnosis of the disease. Hypomelanotic macules are especially important forpatients with epilepsy or babies whose number of hypomelanotic malues is more than 3. Cranial CT isof great value in the diagnosis of TS. The involvement of visceral organs such as the brain andkidney should be examined in TS patients.
