Abstract：
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 characteristic 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 ultrasonography, 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 macules 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.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Sun XF,Yan CL,Fang L,Shen FM,Liao KHkeywords:
subject
Has Abstractpub_date
2005-02-05 00:00:00pages
215-9issue
3eissn
0366-6999issn
2542-5641journal_volume
118pub_type
杂志文章abstract：OBJECTIVE:To report the surgical techniques and results of an 8-year follow-up study of 42 patients with a modified orthotopic ileal neobladder restoring normal anatomical relationship. METHODS:Total cystoprostatectomy was performed extraperitoneally. A 45 - 50 cm segment of the ileal loop was isolated, detubularized,...
journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：2003-12-01 00:00:00
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pub_type： 杂志文章,meta分析,评审
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journal_title：Chinese medical journal
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更新日期：2002-03-01 00:00:00
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pub_type： 杂志文章
doi：10.4103/0366-6999.160521
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journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
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journal_title：Chinese medical journal
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更新日期：2000-05-01 00:00:00
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doi：
更新日期：2009-10-05 00:00:00
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journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：1990-05-01 00:00:00
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journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
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doi：
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doi：
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