Gorham-Stout Syndrome

Gorham-Stout syndrome (also known as vanishing bone disease, phantom bone disease, Gorham disease, and massive osteolysis), is a rare disorder characterized by massive and progressive osteolysis caused by the proliferation of abnormal capillaries of vascular or lymphatic origin. Hemangiomatosis, another common name for the disease, is a misnomer because it implies that the process is neoplastic.

There is progressive osteolysis of one bone or a number of bones in children and young adults; history of minor trauma in approximately 60% of cases; and angiomatosis (capillary, venous, or lymphatic) in the affected bones or in the surrounding soft tissues. The proximal upper extremity, shoulder and pelvic girdle, and mandible are commonly affected.

There can also be altered lymphatic flow, leading to obstruction and edema. Invasion of the thoracic duct or communication of the lymphatic dysplasia with the pleural cavity can lead to chylothorax. Patients with Gorham-Stout syndrome who develop chylothorax need prompt and aggressive surgical intervention, as the condition can be fatal. Mediastinal lymphangioma is a rare association with Gorham-Stout syndrome.

Other associated findings include cystic hygromas in the neck, axilla, chest wall, and mediastinum. Splenic cysts may also be seen.

Early signs of Gorham-Stout syndrome include foci of intramedullary and subcortical lucency that can look like osteoporosis. As the disease progresses, there is tapering the long bones, which can progress to complete resorption. There is typically lack of sclerosis or osteoblastic reaction.

The image shows a case of Gorham-Stout syndrome following a pathologic fracture. The right pelvis is osteopenic and there is compete resorption of the proximal diaphysis. The radiograph was taken at least 10 years after initial diagnosis.

Differential considerations include:

• Skeletal angioma: You may see osteolysis, but there is a tendency to preserve the cortex. In addition, there is limited growth and soft tissue spread.
• Angiosarcoma.
• Essential osteolysis: Multifocal with resorption of the carpal and/or tarsal bones and progressive renal failure.
• Hereditary osteolysis: Multifocal. Primarily involves of the hands and feet. No vascular proliferation is present.
• Rheumatoid arthritis.
• Syphilis.
• Hyperparathyroidism.
• Myeloma.
• Lymphoma.

References

• Collins J. Case 92: Gorham syndrome. Radiology. 2006;238(3):1066-9.
• Gorham L and Stout A. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis, J Bone Joint Surg Am. 1955;37A: 985–1004.