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.
Gorham's 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.
The osteolysis is thought to be due 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.
Gorham disease can potentially involve any bone. Reported sites include:
- humerus (first reported case)
- shoulder girdle
- skull 2
Splenic lesions (cysts) and soft-tissue involvement underlying skeletal disease represent characteristic extra-skeletal manifestations supporting the diagnosis 6.
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
- Tc99m 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, but later defined by Gorham and Stout in 1955.
Imaging differential considerations include:
- 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
- 4. Glass-Royal M, Stull MA. Musculoskeletal case of the day. Gorham syndrome of the right clavicle and scapula. AJR Am J Roentgenol. 1990;154 (6): 1335-6. doi:10.2214/ajr.154.6.2110757 - Pubmed citation
- 5. Okafuji T, Yabuuchi H, Soeda H et-al. Gorham's disease of the chest wall: CT and MR characteristics. J Thorac Imaging. 2006;20 (4): 284-7. Pubmed citation
- 6. Kotecha R, Mascarenhas L, Jackson HA et-al. Radiological features of Gorham's disease. Clin Radiol. 2012;67 (8): 782-8. doi:10.1016/j.crad.2012.01.009 - Pubmed citation
- 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
The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the paediatric patient.
- bone-forming tumours
- cartilage-forming tumours
- chondromyxoid fibroma
- fibrous bone lesions
- bone marrow tumours
- other bone tumours or tumour-like lesions
- aneurysmal bone cyst
- benign fibrous histiocytoma
- giant cell tumour of bone
- Gorham massive osteolysis
- haemophilic pseudotumour
- intradiploic epidermoid cyst
- intraosseous lipoma
- musculoskeletal angiosarcoma
- musculoskeletal haemangiopericytoma
- primary intraosseous haemangioma
- simple bone cyst
- impending fracture risk