Gorham's Disease

Gorham's disease, also known as vanishing bone disease, is a rare congenital disorder characterized by vascular proliferation that results in destruction of bone matrix.

Gorham’s Disease: Also known as Gorham-Stout disease, disappearing bone disease, or essential osteolysis this a rare disease characterized by painless destruction of bone characterized by osteolysis due to encroachment of vascular channels.

Epidemiology: Fewer than 200 cases have been cited in the literature.

Risk Factors: Unknown

Signs: Disease presentation varies with progression of disease which is largely unknown. While the disease may impact the skull, shoulder, ribs, and spine, any boney structure is susceptible. Initial presentation may be weakness, pain, deformity, or even fracture. The clinical course is often protracted but rarely fatal and the disease usually does stabilize.

Differential Diagnosis: Cancers such as reticulum cell sarcoma, Farber’s Disease, Idiopathic multicentric osteolysis, Winchester’s Syndrome

Diagnosis: Diagnoses requires a high index of suspicion. Radiographic evidence is the most striking. 

Treatment: While there is no consensus on a standard therapy, treatment options include resection of the lesion when possible followed by reconstruction with bone grafts. Radiation therapy might also be effective as well as anti-osteoclastic medications such as bisphosphonates.

 


Case #1. Chest radiograph showing sclerotic changes of left scapular glenoid region, absence of clavicles and sternum, irregularity of multiple ribs.
Click on image to enlarge.