Gorham-Stout disease presenting as chest wall defect: A case report and review of literature

戈勒姆-斯托特病表现为胸壁缺损:病例报告及文献综述

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Abstract

Gorham-Stout disease (GSD), also known as vanishing bone syndrome, is an extremely rare, non-malignant condition marked by progressive osteolysis due to abnormal intraosseous lymphatic and vascular proliferation. Extensive chest wall involvement is particularly uncommon and can present without symptoms, complicating diagnosis and management. In this study, a review of similar cases in the literatures is tabulated with comparison of this case to other articles is presented. A 24-year-old male presented with an incidental finding of "hollowness" in his right chest wall following a muscle strain, but remained asymptomatic otherwise. Imaging revealed near-total disappearance of the right 4th to 6th ribs anterolaterally, and partial resorption of the 7(th) and 8(th) ribs laterally. MRI confirmed extensive osteolysis with prominent lymphatic and vascular malformations. Histopathologic evaluation showed degenerative bony trabeculae with fibrous tissue and lymphovascular proliferations, confirming GSD. The patient was managed conservatively-vitamin D and calcium supplementation. No progression of disease was detected at subsequent follow-ups. This case underscores the need for high clinical suspicion and comprehensive evaluation in unexplained rib osteolysis. While various medical (bisphosphonates, sirolimus, interferon-α2b) and surgical interventions have been employed, no standard therapy is established. In asymptomatic patients without life-threatening complications, conservative management may be appropriate. The treatment should be personalized based on disease course and complications. The unpredictable prognosis mandates long-term monitoring.

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