Objective: Gorham-Stout disease (GSD), commonly referred as vanishing bone or phantom bone disease, is a rare disorder characterized by spontaneous bone osteolysis due to proliferation of lymphangiomatous tissue. This disease can involve multiple bones and cause pathologic fractures. The exact cause of GSD is unknown and its severity is unpredictable; the disorder can potentially cause disfigurement or functional disability. According to CARE guidelines, we studied a 46 years old lady with a progressive defect of the skull. Differential diagnosis included: benign and malignant diploic lesions (eosinophylic granuloma of the skull, myeloma, lytic metastasis from unknown primary tumour, etc) and osteomyelitis. A suspicion of GSD was raised by coupling information from laboratory and nuclear medicine investigations, and eventually confirmed histologically.
Conclusion: We included early in the investigation protocols a total body fluorine-18-fluorodeoxyglucose positron emission tomography (18F-FDG PET) scan that was extremely helpful to promptly rule out malignant or infective nature of osteolysis. An update on the diagnostic and management options available for GSD, with particular reference to the role of nuclear medicine and the latest clinical trials from international patients registries and classification of idiopathic osteolysis is provided.