Thoracic Gorham-Stout disease masquerading as an ovarian malignancy: a differential diagnosis in non-malignant causes of raised Ca-125 and overview of this rare pathology

Gorham-Stout disease (GSD) is thought to be due to uncontrolled proliferation of vascular and lymphatic structures within bone tissue causing destruction and osteolysis of bone. We present a patient in her mid-40s who reported chronic shoulder pain, a pleural effusion and irregular periods. Investigations showed osteolysis of her ribs, pleural effusions, an ovarian mass and a raised carbohydrate antigen 125 (Ca-125). She was subsequently diagnosed with GSD, and referred to gynaecology-oncology in consideration of potential ovarian malignancy. GSD is a diagnosis of exclusion that requires a high degree of clinical suspicion, as well as multiple investigations to achieve diagnosis. Clinicians rely on a small number of case reports to provide guidance for this. Therefore, this report provides an overview of a rare pathology, considers the differentials of a raised Ca-125 and describes how a pleural effusion, which links them both, alarmed us regarding an incidental finding of an ovarian cyst.

[1]  N. Sokolovsky,et al.  Raised CA125 – what we actually know… , 2020 .

[2]  Guangru Cao,et al.  A rare case of Gorham-stout syndrome involving the thoracic spine with progressive bilateral chylothorax: a case report , 2019, BMC Musculoskeletal Disorders.

[3]  J. Moss,et al.  CA‐125 in Disease Progression and Treatment of Lymphangioleiomyomatosis , 2017, Chest.

[4]  J. Rhee,et al.  Surgical management of Gorham disease involving the upper cervical spine with occipito-cervical-thoracic fusion: a case report. , 2016, The spine journal : official journal of the North American Spine Society.

[5]  X. Xing,et al.  Gorham-Stout disease: radiological, histological, and clinical features of 12 cases and review of literature , 2016, Clinical Rheumatology.

[6]  B. Olsen,et al.  Viewpoints on vessels and vanishing bones in Gorham-Stout disease. , 2014, Bone.

[7]  I. B. Borel Rinkes,et al.  Novel molecular pathways in Gorham disease: Implications for treatment , 2014, Pediatric blood & cancer.

[8]  Rcog Green-top Management of Suspected Ovarian Masses in Premenopausal Women , 2011 .

[9]  P. Papagelopoulos,et al.  Gorham-Stout disease. , 2010, Journal of surgical orthopaedic advances.

[10]  Y. Bang,et al.  Chylothorax in Gorham's disease. , 2002, Journal of Korean medical science.

[11]  M. Amling,et al.  The Gorham-Stout syndrome (Gorham's massive osteolysis). A report of six cases with histopathological findings. , 1999, The Journal of bone and joint surgery. British volume.

[12]  L. Heffez,et al.  Perspectives on massive osteolysis. Report of a case and review of the literature. , 1983, Oral surgery, oral medicine, and oral pathology.

[13]  R. S. Sinclair,et al.  Advances in Experimental Medicine and Biology , 1983 .

[14]  Willard A. Burns,et al.  Report of a Case and Review of the Literature , 2017 .

[15]  A. Stout,et al.  Hemangiomatosis and its relation to massive osteolysis. , 1954, Transactions of the Association of American Physicians.