Balestri R, Neri I, Patrizi A, Angileri L, Ricci L, Magnano M
Department of Specialized, Clinical and Experimental Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.
J Eur Acad Dermatol Venereol. 2015 Jan;29(1):14-20. doi: 10.1111/jdv.12665. Epub 2014 Aug 29.
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome causing hamartomatous growths in multiple organs. Facial angiofibromas occur in up to 80% of patients and can be highly disfiguring. Treatment for these lesions has historically been challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas but a commercially available compound has not yet been developed.
The aim of this review is to analyse the current data on the use of topical rapamycin in the treatment of angiofibromas in TSC, focusing on the risk-benefit profile.
A retrospective review of the English-language literature was conducted.
Sixteen reports describing the use of topical rapamycin in the treatment of angiofibromas in TSC were considered, involving a total of 84 patients. An improvement of the lesions has been shown in 94% of subjects, particularly if the treatment was started at early stages. Several different formulations (ointment, gel, solution and cream) with a wide range of concentrations (0.003%-1%) were proposed. Only 4 local adverse side-effects were reported after the use of rapamycin solution.
Topical rapamycin can be considered a safe option for the treatment and the prevention of facial angiofibromas in younger patients, but the best formulation has not been established. Our review demonstrates that ointment and gel should be preferred, but it is not clear which concentration is optimal. Long-term and comparative studies between topical rapamycin and ablative techniques are required to establish which treatment has a better outcome and lower recurrence rate.
结节性硬化症（TSC）是一种常染色体显性神经皮肤综合征，可导致多个器官出现错构瘤性生长。面部血管纤维瘤在高达80%的患者中出现，且可能极具毁容性。这些损害的治疗一直具有挑战性。最近，局部用雷帕霉素已被提议作为治疗血管纤维瘤的一种有效选择，但尚未开发出可商购的化合物。
本综述的目的是分析局部用雷帕霉素治疗TSC患者血管纤维瘤的现有数据，重点关注风险效益概况。
对英文文献进行回顾性分析。
共纳入16篇描述局部用雷帕霉素治疗TSC患者血管纤维瘤的报告，涉及84例患者。94%的受试者病变有改善，特别是如果在早期开始治疗。提出了几种不同剂型（软膏、凝胶、溶液和乳膏），浓度范围广泛（0.003%-1%）。使用雷帕霉素溶液后仅报告了4例局部不良反应。
局部用雷帕霉素可被视为治疗和预防年轻患者面部血管纤维瘤的安全选择，但最佳剂型尚未确定。我们的综述表明应首选软膏和凝胶，但尚不清楚哪种浓度最佳。需要进行局部用雷帕霉素与消融技术的长期对比研究，以确定哪种治疗效果更好且复发率更低。
