結節性硬化症屬少見的體染色體顯性遺傳疾病。發生率約5-30萬分之一。50%是由突變而來。臉部皮脂腺腫(adenoma sebaceum),智能發育延遲,癲癇等三者是本症診斷特點。可能出現的皮膚病變除臉部皮脂腺腫(正確名稱為血管性纖維瘤angiofibroma)外,尚有鯊魚皮樣斑(shagreen patch)、葉狀白斑(ash-leaf hypomelanotic macula)、甲圍纖維瘤(periungual fibroma)等。我們提出一結節性硬化症案例,在仔細評估後,選擇以切除與雷射磨皮併用來治療她的皮膚病變。術後追蹤兩年,症狀與美觀方面都有改善。我們也討論了有關文獻著作。
Tuberous sclerosis is an inheritable neurocutaneous disease with variable expression. Facial adenoma sebaceum, mental retardation, and seizure are the classic triad of manifestations. This disease is manifested by the growth of benign tumors or harmatomas, most commonly of the skin, brain, heart, and kidney. We present a case of tuberous sclerosis that was referred for cosmetic improvement surrounding her facial lesions. Treatment with a combination of excision and laser resurfacing was performed. Two years of follow up shows symptomatic and cosmetic improvement. We discuss the case and review the literatures.