Department of Dermatology.
Department of Orthopedic Surgery.
Bol Med Hosp Infant Mex. 2023;80(3):217-221. doi: 10.24875/BMHIM.23000015.
Gorham-Stout disease (GSD) is a rare syndrome characterized by lymphatic malformations, mainly in bone structures, causing progressive osteolysis. Lymphatic endothelial cell proliferation depends on several growth factors that use the phosphoinositide-3 kinase (PI3K)/Akt pathway and converge on the mammalian target molecule of the rapamycin (mTOR) pathway. These findings have allowed treating GSD with mTOR pathway inhibitors such as sirolimus or everolimus.
We present the case of a one-year-old female patient referred to our institution after a right femur fracture and progressive limb volume increase, disproportionately to the trauma. After several episodes of soft tissue infections, imaging studies showed pseudarthrosis, lytic lesions, and progressive loss of the right femur that ended in total absence. A femur biopsy showed lymphatic structures positive with D2-40 staining, diagnosing GSD. After six months of non-response to traditional treatments, the limb was disarticulated at the hip level, and oral sirolimus treatment was initiated, showing clinical and radiological improvement with minor lytic lesions and evidence of ossification after 20 months of treatment.
Oral sirolimus treatment for GSD inhibits angiogenesis and osteoclastic activity, stimulating bone anabolism and leading to arrested osteolysis progression and improved ossification, quality of life, and patient prognosis. Therefore, sirolimus should be considered a therapeutic option for this rare disease.
Gorham-Stout 病（GSD）是一种罕见的综合征，其特征为淋巴畸形，主要发生于骨结构，导致进行性溶骨性破坏。淋巴内皮细胞增殖依赖于几种生长因子，这些生长因子通过磷酸肌醇-3 激酶（PI3K）/Akt 通路发挥作用，并汇聚于雷帕霉素哺乳动物靶标（mTOR）通路。这些发现使得可以使用 mTOR 通路抑制剂（如西罗莫司或依维莫司）来治疗 GSD。
我们报告了一例 1 岁女性患者的病例，该患者因右股骨骨折和肢体体积进行性增加（与创伤不成比例）而转至我院。在经历了几次软组织感染后，影像学检查显示假关节、溶骨性病变和右股骨进行性丢失，最终完全缺失。股骨活检显示 D2-40 染色阳性的淋巴结构，诊断为 GSD。在对传统治疗方法无反应六个月后，在髋关节水平进行了肢体离断，开始口服西罗莫司治疗，在 20 个月的治疗后，临床和影像学均有改善，溶骨性病变减少，且有骨化的证据。
口服西罗莫司治疗 GSD 可抑制血管生成和破骨活性，刺激骨合成代谢，从而阻止溶骨性破坏进展并改善骨化、生活质量和患者预后。因此，西罗莫司应被视为这种罕见疾病的治疗选择。
