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Gorham-Stout disease

Orpha number ORPHA73
Synonym(s) Diffuse cystic angiomatosis of bone
Essential osteolysis
Gorham disease
Gorham syndrome
Idiopathic massive osteolysis
Massive osteolysis
Phantom bone disease
Progressive massive osteolysis
Vanishing bone disease
Prevalence Unknown
Inheritance
  • Sporadic
Age of onset Variable
ICD-10
  • M89.5
OMIM
UMLS
  • C0029438
MeSH -
MedDRA -
SNOMED CT
  • 1515008

Summary

Gorham-Stout disease (GSD) is defined as a spontaneous, massive osteolysis characterized by local proliferation of small vascular or lymphatic vessels resulting in progressive destruction and resorption of bone. It is a rare condition of unknown etiology that occurs sporadically and usually affects children and young adults without sex preference. Fewer than 200 cases are reported in the literature. Since its first description in 1955, there is still controversy about its etiology, prognosis and treatment. GSD may affect one or more, often contiguous bones, with predominant sites of manifestation including the pelvis, shoulder girdle, spine, ribs and skull. Clinical signs at presentation include pain, swelling and spontaneous fractures. Osteolysis may stop progressing at any time, but often osseous tissue completely disappears, leaving only a residual fibrous band, a dramatic development inspiring the term 'vanishing bone disease.' Diagnosis is based on clinical, radiological and histopathological findings. Since GSD is usually a diagnosis of exclusion, it is important to be differentiated from osteolysis caused by infection, inflammation, endocrine disorders and tumours. No effective treatment is standardized yet. Management of GSD includes surgery, radiotherapy and various medications (alone or combined): vitamin D, sodium fluoride, calcium glycerophosphate, Interpheron alfa 2b, bisphosphonates.

Expert reviewer(s)

  • Dr Martine LE MERRER

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