eTreatment of Infantile Hemangiomas with Sirolimus in a Patient with PHACE Syndrome
eTreatment of Infantile Hemangiomas with Sirolimus in a Patient with PHACE Syndrome
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DOI：
10.1111/pde.12023
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发表时间：
2013-11-01
影响因子：
1.5
通讯作者：
Pressey, Joseph G.
中科院分区：
文献类型：
--
作者：
Kaylani, Samer;Theos, Amy J.;Pressey, Joseph G.
婴儿血管瘤（IH）是儿童期常见的良性肿瘤。 IH 通常无需干预即可令人满意地消退，但 IH 的一部分可能会导致需要治疗的功能或美容发病率。 PHACE 综合征的特征是多种神经皮肤和血管异常，通常包括节段性血管瘤。我们介绍了一名患有 PHACE 综合征和节段性 IH 的婴儿，常规一线治疗失败。西罗莫司治疗有助于皮肤 IH 的消退。作为哺乳动物雷帕霉素靶点 (mTOR) 通路的抑制剂，西罗莫司的有效使用可能有助于揭示 mTOR 信号在 IH 发生和发病机制中的新作用。
Infantile hemangiomas (IHs) are common benign tumors of childhood. IHs often regress satisfactorily without intervention, but a subset of IHs may lead to functional or cosmetic morbidity necessitating therapy. PHACE syndrome is characterized by a variety of neurocutaneous and vascular anomalies that typically include segmental hemangiomas. We present an infant with PHACE syndrome and segmental IH that failed conventional first-line therapies. Treatment with sirolimus provided benefit with regression of the cutaneous IH. As an inhibitor of the mammalian target of rapamycin (mTOR) pathway, the effective use of sirolimus may shed light on the emerging role of mTOR signaling in the development and pathogenesis of IHs.