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 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.
Sun
Xin-Fen
XF
Department of Dermatology, Huashan Hospital, Fudan University, Shanghai 200040, China. sunxinfen@citiz.net
Yan
Chun-Lin
CL
Fang
Li
L
Shen
Fu-Min
FM
Liao
Kang-Huang
KH
D000293:Adolescent; D000328:Adult; D018207:Angiomyolipoma / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000209:etiology; D008297:Male; D011859:Radiography; D012867:Skin / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*