Kaylani Samer, Theos Amy J, Pressey Joseph G
Division of Hematology-Oncology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Pediatr Dermatol. 2013 Nov-Dec;30(6):e194-7. doi: 10.1111/pde.12023. Epub 2013 Jan 15.
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.
婴儿血管瘤（IHs）是儿童期常见的良性肿瘤。IHs通常无需干预即可令人满意地消退，但一部分IHs可能导致功能或美容方面的问题，需要进行治疗。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。我们报告一名患有PHACE综合征和节段性IH的婴儿，其常规一线治疗无效。西罗莫司治疗使皮肤IH消退，带来了益处。作为雷帕霉素靶蛋白（mTOR）通路的抑制剂，西罗莫司的有效应用可能有助于揭示mTOR信号在IHs发生发展和发病机制中的新作用。
