Gorham disease

Last revised by Frank Gaillard on 24 Apr 2024

Gorham disease, also known as Gorham-Stout 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. The disease starts in one bone but may spread to involve adjacent bony and soft tissue structures.

Other names for this condition include progressive massive osteolysis, Gorham-Stout disease, and phantom bone disease.

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

Signs and symptoms are incredibly varied depending on the bones involved, and may only become apparent after a fracture.

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 hypervascular 10.

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.

  • 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

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

Therapeutic options of Gorham disease include pharmacological treatment followed by radiotherapy and resection arthroplasty 14.

It was first reported by Jackson in 1838 12 and later defined by Gorham and Stout in 1955 13.

Imaging differential considerations include:

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