Topical Rapamycin for Facial Angiofibromas in a Child with Tuberous Sclerosis Complex (TSC): A Case Report and Long-Term Follow-up.
Topical Rapamycin for Facial Angiofibromas in a Child with Tuberous Sclerosis Complex (TSC): A Case Report and Long-Term Follow-up.
复制标题
DOI：
10.1007/s13555-017-0174-5
复制
发表时间：
2017-03
影响因子：
3.4
通讯作者：
Pföhler C
中科院分区：
文献类型：
--
作者：
Ebrahimi-Fakhari D;Müller CSL;Meyer S;Flotats-Bastardas M;Vogt T;Pföhler C
结节性硬化症 (TSC) 是一种遗传性多系统疾病，具有明显的皮肤受累，包括经常出现在儿童早期的面部血管纤维瘤。在此，我们报告了一名 12 岁女孩的病例，该女孩患有广泛的面部血管纤维瘤，导致毁容，并通过局部雷帕霉素（一种 mTOR 抑制剂）成功治疗。经过三年的随访，详细记录了皮肤损伤的持续缓解。该病例强调了这样一个事实：外用雷帕霉素是治疗 TSC 相关皮肤病变的有效选择。特别是对于病情复杂的患者，局部治疗可以减少手术干预的需要，降低手术风险、其副作用和永久性疤痕。但目前尚无标准剂量或配方。外用雷帕霉素似乎很安全，但需要长期维持治疗以防止面部病变再生。
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement including facial angiofibromas that often appear in early childhood. Here we report the case of a 12-year-old girl with widespread disfiguring facial angiofibromas that were successfully treated with topical rapamycin, a mTOR inhibitor. A sustained remission of skin lesions was documented in detail over a 3-year follow-up. This case highlights the fact that topical rapamycin is a useful option in treating TSC-associated skin lesions. Especially in medically complex patients topical treatment may lessen the need for surgical interventions, reducing the risks of surgery, its adverse effects and permanent scarring. However, there is no standard dose or formulation at present. Topical rapamycin appears safe, but long-term maintenance therapy is necessary to prevent facial lesions from regrowth.