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Gorham disease, also known as 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.
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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)
Splenic lesions (cysts) and soft-tissue involvement underlying skeletal disease represent characteristic extraskeletal manifestations supporting the diagnosis 6.
Plain radiograph 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
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 12 and later defined by Gorham and Stout in 1955 13.
Imaging differential considerations include:
multifocal lymphatic malformations, including intramedullary bone lesions
does not classically cause progressive osteolysis 11
osteolytic primary bone lesion
- 1. Collins J. Case 92: Gorham syndrome. Radiology. 2006;238 (3): 1066-9. Radiology (full text) - doi:10.1148/radiol.2383032126 - Pubmed citation
- 2. Lo CP, Chen CY, Chin SC et-al. Disappearing calvarium in Gorham disease: MR imaging characteristics with pathologic correlation. AJNR Am J Neuroradiol. 2004;25 (3): 415-8. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 3. Möller G, Priemel M, Amling M et-al. The Gorham-Stout syndrome (Gorham's massive osteolysis). A report of six cases with histopathological findings. J Bone Joint Surg Br. 2000;81 (3): 501-6. Pubmed citation
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- 7. Spieth ME, Greenspan A, Forrester DM et-al. Gorham's disease of the radius: radiographic, scintigraphic, and MRI findings with pathologic correlation. A case report and review of the literature. Skeletal Radiol. 1998;26 (11): 659-63. Pubmed citation
- 8. Damron TA, Brodke DS, Heiner JP et-al. Case report 803: Gorham's disease (Gorham-Stout syndrome) of scapula. Skeletal Radiol. 1994;22 (6): 464-7. Pubmed citation
- 9. Rauh G, Gross M. Disappearing bone disease (Gorham-stout disease): report of a case with a follow-up of 48 years. Eur. J. Med. Res. 1998;2 (10): 425-7. Pubmed citation
- 10. Patel DV. Gorham's disease or massive osteolysis. Clin Med Res. 2006;3 (2): 65-74. Free text at pubmed - Pubmed citation
- 11. Lala S, Mulliken JB, Alomari AI, Fishman SJ, Kozakewich HP, Chaudry G. Gorham-Stout disease and generalized lymphatic anomaly--clinical, radiologic, and histologic differentiation. (2013) Skeletal radiology. 42 (7): 917-24. doi:10.1007/s00256-012-1565-4 - Pubmed
- 12. Jackson J. A boneless arm. (1838) Boston Med Surg J. 18:398–399.
- 13. Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. (1955) The Journal of bone and joint surgery. American volume. 37-A (5): 985-1004. Pubmed