Description of the disease

Gorham-Stout syndrome is a rare condition of unknown aetiology that is thought to result from a localised endothelial proliferation of lymphatic vessels resulting in destruction and absorption of bone. The disease has been described in patients as young as 1 month to as old as 75 years. It was first reported by Jackson in 1838 in a 12-year-old boy with complete osteolysis of the humerus. In 1955, Gorham and Stout further characterized the main pathologic features of this rare disease as nonmalignant intraosseous proliferation of vascular tissue that caused massive osteolysis. Imaging features of Gorham disease at conventional radiography, CT, MR, and scintigraphy have been reported elsewhere in the literature and most of the cases failed to show the vasculature entity of the lesion, an important pathologic feature of the disease. Moreover, because of a lack of specific findings on conventional images, including those of conventional radiography and CT, the diagnosis of Gorham disease can be difficult. Other diseases such as Paget disease and metastases may have similar appearance. Although the disease is quite well described, it does not occur often enough to be recognised readily. It often takes many years for the condition to be recognized. Because of this rarity it is most unusual for a case of Gorhams disease to be known from the beginning of an incident and for ancillary treatment to be commenced at once. Yet because of the nature of the disease, repeat fracture might be expected to be common. In most instances, the condition is not recognised until a fracture occurs and bone healing is delayed or subverted.

The condition affects both sexes equally and has been noted to be posttraumatic in many cases. Clinical onset has been reported to occur anytime from childhood to adulthood; it usually manifests unilaterally and includes focal lymphatic proliferation involving one bone or contiguous bones (such as vertebrae). Adjacent soft tissue can also be involved, producing diffuse muscle atrophy .Any part of the skeleton can be affected. Involvement of the thoracic cage is progressive and life-threatening. The pathological process is the replacement of normal bone by an aggressively expanding lymphatic tissue. It is unknown what stimulus sets off this change in bone and also whether all bones of the affected individual are equally likely to react in this adverse fashion. Since it is most commonly seen in trauma it is reasonable to deduce that the traumatic episode initiates the sequence of events. Since neovasularisation of the blood clot that forms in between fragments of a fracture is the first step in bone healing it is tempting to speculate that some error in this process, or in the control of this process, is the root cause of Gorham's Disease. Wildly proliferating neovascular tissue appears to be the agent of the massive bone loss in this condition.