Gorham-Stout disease: A rare bone disorder

Background: Gorham-Stout disease (GSD) is a rare disorder characterised by spontaneous and progressive bone resorption. It is a benign, generally self-limited disease; the evolution is unpredictable, with severe complications. There is no correlation with gender, ethnicity, environmental and infectious risk factors. The etiopathogenesis is unknown. A key role of osteoclasts was suggested as one possible hypothesis. Recently, the genomic analysis revealed the presence of mutations in genes involved in vasculogenesis, angiogenesis and lymphangiogenesis. GSD could occur in different bones, commonly on the maxillofacial and upper limbs. Symptoms are related to the affected site. Generally, the disease presents with swelling, pain and functional limitation of the involved district but may also be asymptomatic until a pathological fracture occurs. Objective: An exhaustive search of PubMed, Scopus, and Cochrane library was performed. The research was limited from 1838 to March 2022. This review aims to summarise the latest knowledge on the etiopathogenesis, clinical manifestations, differential diagnosis, and treatment of GSD to provide orthopaedic surgeons with a guide to treat this rare disease correctly. Conclusions: Diagnosis is challenging and of exclusion. It is based on clinical suspicion and diagnostic tests. Standard X-rays, CT, MRI and bone-scan, contribute to characterising the disease. Diagnostic confirmation is by histopathological examination. Treatments are different and not yet standardised. Pharmacological, radiotherapeutic or surgical approaches can be performed alone or in combination. Medical treatments are based on bisphosphonates and anti-angiogenic drugs. Radiotherapy could improve pain symptoms and reduce bone resorption. Surgically, osteolysis could be treated by bone resection and reconstruction with bone grafts, prostheses, or a combination of these.