Truchuelo Teresa, Díaz-Ley Blanca, Ríos Luis, Alcántara Javier, Jaén Pedro
Ramón y Cajal Hospital Madrid, Spain.
Dermatol Online J. 2012 Jan 15;18(1):15.
Tuberous sclerosis (TS) is the second most common genodermatosis in our country and one of its main characteristics is the presence of facial angiofibromas. These benign tumors can be really bothersome for some patients and there is not a gold-standard treatment. Laser therapy has been used with good responses but it is a painful option and recurrence is guaranteed. TS develops as a result of a mutation of one of two genes, TSC1 or TSC2, which encode for hamartin and tuberin, respectively. TSC1 and TSC2 are tumor suppressors that inhibit mTOR, which if mutated results in mTOR activation, leading to an increase in protein translation. This eventually induces formation of hamartomatous tumors in patients with TSC. Oral rapamycin had been reported to be effective for the treatment of various tumors, apparently because of its action of inhibiting the m-TOR complex. Recently it has been suggested that the drug may be effective when applied topically. We report the 6th case of facial AF treated with topical rapamycin, 1 percent, once per day. An excellent response was achieved surprisingly rapidly. We propose this option as a safe and effective therapy.
结节性硬化症（TS）是我国第二常见的遗传性皮肤病，其主要特征之一是面部血管纤维瘤的存在。这些良性肿瘤对一些患者来说可能非常困扰，并且没有金标准治疗方法。激光治疗虽有良好效果，但很痛苦且复发难以避免。TS是由TSC1或TSC2这两个基因之一发生突变引起的，它们分别编码错构瘤蛋白和结节蛋白。TSC1和TSC2是肿瘤抑制因子，可抑制mTOR，若mTOR发生突变则会导致其激活，进而增加蛋白质翻译。这最终会在TS患者中诱导错构瘤性肿瘤的形成。据报道，口服雷帕霉素对各种肿瘤的治疗有效，显然是因其抑制m - TOR复合物的作用。最近有人提出该药物局部应用可能有效。我们报告了第6例用1%的局部雷帕霉素治疗面部血管纤维瘤的病例，每天一次。令人惊讶的是，很快就取得了极佳的效果。我们建议将此方法作为一种安全有效的治疗方法。
