de Grazia Renatta, Giordano Consuelo, Cossio Laura, Downey Camila, Delucchi Ángela, Kramer Daniela
Departamento de Dermatología, Facultad de Medicina, Universidad de Chile, Chile.
Hospital Padre Hurtado, Facultad de Medicina, Universidad del Desarrollo, Chile.
Rev Chil Pediatr. 2019 Dec;90(6):662-667. doi: 10.32641/rchped.v90i6.1025.
CLOVES syndrome is characterized by lipomatous overgrowth associated with vascular malforma tions, representing a diagnostic and a therapeutic challenge. Rapamycin, an mTOR inhibitor, has proved to be a good therapeutic option in some vascular anomalies. In this article, we report two ca ses of CLOVES syndrome with good response to oral rapamycin treatment.
To report the outcome of two patients with CLOVES syndrome treated with oral rapamycin.
Case 1: A three-year-old female preschooler with CLOVES syndrome and history of repeated hospita lizations due to severe infections resulting from macrocystic lymphatic malformations and due to thrombotic episodes. The patient evolved with poor quality of life, multiple hospitalizations, surgical risk and progression of the lesions, therefore, oral rapamycin was indicated. After six months of treatment, clinical and radiological reduction in the size of the lipomatous and lymphatic masses, cutaneous lymphorrhea absence and a significant improvement of her quality of life were observed, without requiring new hospitalizations. Case 2: a ten-year-old female schooler with CLOVES syndro me, who developed scoliosis and deterioration of her motor skills, becoming wheelchair-dependent. Oral rapamycin was indicated, showing improvement in her physical capacity, independence and au tonomy, and absence of lymphorrhea after four months of treatment.
We propose oral rapamycin for the treatment of patients with CLOVES syndrome who present with complications and deterioration in the quality of life as a result of the disease.
CLOVES综合征的特征是脂肪过度生长并伴有血管畸形，这给诊断和治疗带来了挑战。雷帕霉素是一种mTOR抑制剂，已被证明在一些血管异常疾病中是一种很好的治疗选择。在本文中，我们报告了两例对口服雷帕霉素治疗反应良好的CLOVES综合征病例。
报告两例接受口服雷帕霉素治疗的CLOVES综合征患者的治疗结果。
病例1：一名三岁女性学龄前儿童，患有CLOVES综合征，因大囊型淋巴管畸形导致严重感染及血栓形成事件而反复住院。患者生活质量差，多次住院，存在手术风险且病变进展，因此给予口服雷帕霉素治疗。治疗六个月后，观察到脂肪和淋巴肿块的临床及影像学尺寸减小，皮肤淋巴漏消失，生活质量显著改善，无需再次住院。病例2：一名十岁女性学龄儿童，患有CLOVES综合征，出现脊柱侧弯且运动技能退化，需依赖轮椅。给予口服雷帕霉素治疗，治疗四个月后，其身体能力、独立性和自主性得到改善，且无淋巴漏。
对于因CLOVES综合征出现并发症且生活质量下降的患者，我们建议使用口服雷帕霉素进行治疗。
