Johnstun Jared, Brady Luther, Simstein Rebecca, Duker Nahum
Hahnemann University Hospital, Philadelphia, PA USA.
Rare Tumors. 2010 Sep 30;2(3):e40. doi: 10.4081/rt.2010.e40.
Type IV osteolysis or Gorham-Stout syndrome is a rare condition characterized by recurrent vascular tumors that disrupt normal anatomical architecture. Gorham-Stout syndrome is most commonly associated with the skeletal system with resulting replacement of bone with scar tissue following tumor regression. The loss of entire bones has given Gorham-Stout syndrome the moniker vanishing bone disease. Natural progression of Gorham-Stout syndrome is characterized by spontaneous disease resolution. However, rare variants of recurrent, progressive, and/or systemic disease have been reported. We present a patient with a history of recurrent Gorham- Stout disease refractory to all treatment options considered. In addition to skeletal disease, our patient had soft tissue and cutaneous involvement, thus reflecting the more aggressive disease variant. Previous surgical attempts to control disease had been ineffective and the patient was referred to us for radiation therapy. Treatment with external beam radiation therapy resulted in good local control and symptom palliation, but full disease resolution was never accomplished. In addition to presentation of this patient, a review of the literature on etiological hypotheses and past/future treatment options was conducted and is included.
IV型骨质溶解或戈勒姆-斯托特综合征是一种罕见疾病，其特征为反复出现的血管肿瘤，这些肿瘤会破坏正常的解剖结构。戈勒姆-斯托特综合征最常与骨骼系统相关，肿瘤消退后会导致骨组织被瘢痕组织替代。整根骨头的缺失使戈勒姆-斯托特综合征有了“消失性骨病”这一别名。戈勒姆-斯托特综合征的自然病程以疾病自发缓解为特征。然而，也有复发性、进行性和/或全身性疾病的罕见变体的报道。我们报告了一位有复发性戈勒姆-斯托特病病史的患者，对所有考虑的治疗方案均无效。除了骨骼疾病外，我们的患者还有软组织和皮肤受累，这反映了更具侵袭性的疾病变体。之前控制疾病的手术尝试均无效，该患者被转诊至我们处接受放射治疗。外照射放疗治疗取得了良好的局部控制和症状缓解，但疾病从未完全消退。除了介绍该患者外，还对病因假说及过去/未来治疗方案的文献进行了综述并纳入其中。
