Gorham-Stout Disease: Case Report and Suggested Diagnostic Evaluation of a Rare Clinical Entity

ABSTRACT Objective: Gorham-Stout disease (GSD), otherwise known as vanishing bone disease, is a rare disorder that is associated with bone destruction resulting in massive osteolysis secondary to proliferation of vascular channels. The exact etiology and mechanism of bone resorption is unknown. The disease process can be benign and self-limiting or progressive and life-threatening. The optimal initial evaluation, follow-up, and treatment procedures have not yet been defined. Various treatments and modalities have been suggested and include bisphosphonates, alpha-2β interferon, external beam radiation therapy, and surgery. Methods: Systematic literature searches were performed using the PubMed and EMBASE databases. Results: We present the case of a 20-year-old, asymptomatic man with incidentally noted lucency of the T3, T4, and T5 posterior ribs on chest radiograph. Follow-up imaging identified progressive osteolysis consistent with a diagnosis of GSD. Initial workup revealed a significantly low level of 25-hydroxyvitamin D (9 ng/mL; adequate is >30 ng/mL) and mild elevation of the bone formation markers pro-collagen 1 intact N-terminal peptide (102 μg/L; reference range is 22 to 87 μg/L) and bone-specific alkaline phosphatase (23 μg/L; reference range is 0 to 20 μg/L). His C-telopeptide level was normal (521 pg/mL; reference range is 90 to 750 pg/mL) but was higher than the median of the reference range. He was started on cholecalciferol at 2,000 IU daily and treated with a 5-mg, intravenous infusion of zoledronic acid. Conclusion: The initial presentation of GSD can provoke significant anxiety in both patients and their clinicians given the potential significant outcomes and paucity of data on the evaluation and management of this disease. Here we propose a method for initial diagnostic workup and follow-up. Abbreviations: CT computed tomography GSD Gorham-Stout disease