Gorham Disease

Gorham disease, a rare condition of unknown etiology, presents as skeletal lucency on radiographs, prompting the classic eponym of vanishing bone disease. Initial clinical presentation varies considerably but typically involves prolonged soreness in the affected region and, rarely, acute pathologic fracture. The nonspecific nature of complaints, lack of markers of systemic illness, and rarity of the disease contribute to delayed diagnosis. Several imaging studies (eg, plain radiographs, computed tomography, magnetic resonance imaging, nuclear studies) provide nonspecific findings, but frank cortical destruction and true "disappearance" of bone with extensive soft-tissue edema are evident. Diagnosis can be rendered only after exclusion of neoplastic and infectious etiologies through clinical and laboratory work-up, imaging studies, and tissue sampling. Although no single or combined treatment modality is considered the gold standard, management generally centers on radiation therapy for local control of large and painful lesions, and on surgical intervention for pathologic progression that would otherwise result in substantial functional limitations. Antiosteoclastic medications, a combination of interferon alpha-2b and low-molecular-weight heparin, and propranolol reportedly have been of some benefit.