Gorham-Stout disease (GSD), also called vanishing bone disease, is an extremely rare skeletal disorder characterized by destruction of osseous matrix due to a massive process of osteolysis and proliferation of blood and lymph vessels, followed by a lack of deposition of new bone matrix. GSD can occur either at the level of a single bone or affect several bones, although the bones of the upper part of the skeletal system, especially at maxillofacial level, seem to be preferentially involved. To date, the diagnosis of GSD, mainly based on radiographic and histological analyses, is often made by excluding the presence of other diseases. Unfortunately, despite the several studies on GSD that have been carried out since its discovery, the pathogenesis of this disease is still unknown. Consequently, the therapies currently used are mainly aimed at keeping the disease under control, trying to avoid its progression, but they are not decisive, and this is in fact due to the lack of knowledge of its pathogenetic and pathophysiological bases.
This concise review aims to provide a brief overview of the state of the art of current research regarding the etiopathogenesis of GSD and the discovery and development of new and different diagnostic and therapeutic methods.
KEY WORDS: GSD, lymph vessel, blood vessel, bone cells
