Kim David, Benjamin Latanya, Wysong Ashley, Hovsepian David, Teng Joyce
Department of Dermatology, Stanford University School of Medicine, Stanford, California.
Department of Dermatology and Pediatrics, Stanford University School of Medicine, Stanford, California.
Dermatol Ther. 2015 Jul-Aug;28(4):218-21. doi: 10.1111/dth.12208. Epub 2015 Mar 5.
Venolymphatic malformations (VLMs) are vascular anomalies consisting of both veins and lymph vessels. A 2-week-old newborn presented with large VLMs on the left forehead, temple, preauricular area, and orbit. Patient was at imminent risk for permanent vision loss due to a localized mass effect. Surgical excision or debulking was contraindicated due to its complexity and proximity to the left eye, and the patient failed to respond to the sildenafil treatment and sclerotherapy. Patient was subsequently started on oral sirolimus 0.8 mg/m(2) twice daily in combination with prednisolone 2 mg/kg daily. The patient had an excellent therapeutic outcome for 7 months with complete preservation of vision before treatment was discontinued. However, 2 months after the medical treatments were discontinued, her VLM rebounded. She responded to the combination therapy again after a failed treatment with the mTOR inhibitor alone. This case demonstrates that the sirolimus and prednisolone combination therapy could be beneficial for treatment of complex VLM intractable to other treatments.
静脉淋巴管畸形（VLM）是由静脉和淋巴管组成的血管异常。一名2周大的新生儿在左前额、颞部、耳前区域和眼眶出现大面积静脉淋巴管畸形。由于局部肿块效应，患者面临永久性视力丧失的紧迫风险。由于其复杂性和靠近左眼，手术切除或减瘤术是禁忌的，并且患者对西地那非治疗和硬化疗法无反应。患者随后开始口服西罗莫司0.8mg/m²，每日两次，联合泼尼松龙2mg/kg，每日一次。患者在治疗停止前的7个月内取得了优异的治疗效果，视力得以完全保留。然而，在停止药物治疗2个月后，她的静脉淋巴管畸形复发。在单独使用mTOR抑制剂治疗失败后，她再次对联合治疗产生反应。该病例表明，西罗莫司和泼尼松龙联合治疗可能有益于治疗对其他治疗难以处理的复杂静脉淋巴管畸形。
