Gorham disease

Gorham disease or vanishing bone disease is a poorly understood rare skeletal condition which manifests with massive progressive osteolysis along with a proliferation of thin walled vascular channels. Other names for this condition include progressive massive osteolysis, Gorham-Stout disease, and phantom bone disease.

The disease starts in one bone but may spread to involve adjacent bony and soft tissue structures.

Epidemiology

Gorham disease is thought to be non-hereditary and there is no recognised gender predilection. It can potentially occur in any age group although most reported cases have been in young adults ².  

Pathology

The osteolysis is thought to be due to an increased number of stimulated osteoclasts ³, which is likely secondary to abundant non-neoplastic vascular and lymphatic proliferation in the affected region ⁹. The bone is subsequently replaced by variable amounts of fibrous connective tissue that is hypervascular¹⁰.

Location

Gorham disease can potentially involve any bone. Reported sites include:

• humerus (first reported case)
• shoulder girdle
• pelvis
• skull ²
• mandible

Splenic lesions (cysts) and soft-tissue involvement underlying skeletal disease represent characteristic extraskeletal manifestations supporting the diagnosis ⁶.

Radiographic features

Plain film and CT

• intramedullary or subcortical lucent foci may be the earliest manifestation ¹
• this progresses to profound osteolysis with resorption of affected bone and lack of compensatory osteoblastic activity or periosteal reaction

Scintigraphy

• ^99mTc bone scan may initially be positive but later becomes negative with ongoing bone resorption

History and etymology

It was first reported by Jackson in 1838 and defined by Gorham and Stout in 1955.

Differential diagnosis

Imaging differential considerations include:

• generalised lymphatic anomaly
  • multifocal lymphatic malformations, including intramedullary bone lesions
  • does not classically cause progressive osteolysis ¹¹
• osteolytic metastases
• osteolytic primary bone lesion
• multiple myeloma
• osteomyelitis
• rapidly progressive osteoarthritis
• Milwaukee shoulder
• multicentric carpal tarsal osteolysis