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Archive

Summer 2012, Vol. 20 No. 2

Hong Kong J. Dermatol. Venereol. (2012) 20, 61-67


Review Article

Tuberous sclerosis complex: an update

結節性硬化症的最新發展

TS Cheng 鄭天錫

Abstract

Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous syndrome, may be caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterised by cutaneous changes, neurologic conditions and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. Until recently, the mainstay of management of TSC is supportive and treatment of complications. Recent studies have revealed that mammalian target of rapamycin (mTOR) inhibitors are promising in the treatment of this condition.This paper reviews the literature to provide a current understanding of the disease.

結節性硬化症是一種較為罕見的,自體顯性遺傳的神經皮膚症候群,可由分別製造錯構素和馬鈴薯球蛋白的TSC1TSC2基因突變所造成。此病的特徵為皮膚和神經系統出現病變;並在身體不同系統及器官,長出錯構瘤,導致疾病及死亡個案的發生。直至最近為止,其主要治療方案仍然是支持性治療以及處理其引起的併發症。最新的研究顯示,哺乳動物雷帕黴素靶蛋白抑制劑對此病的療效令人鼓舞,具有很大的發展潛力。本文將審視當代文獻,總結現今對此病的最新認識。

Keywords: mTOR inhibitor, rapamycin, TSC, tuberous sclerosis complex

關鍵詞: 哺乳動物雷帕黴素靶蛋白抑制劑,雷帕黴素, TSC,結節性硬化