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Gorham’s disease is a rare congenital disorder characterized by proliferation of vascular channels that cause massive destruction of bone matrix. The disease was first described by Gorham et al. in 1954.
Synonyms include:[1]
The etiology of the disease remains unclear.
The presentation of the disease varies considerably, and a high index of suspicion is needed to reach an early diagnosis. Dull musculoskeletal pain and progressive weakness is typical, with a protracted but progressive development of symptoms.
Gorham’s disease may cause pathologic fractures, and acute or chronic pain. In children it may cause bone deformity. When detected early, radiographic evidence of decreased bone mass can be found.
Involvement of the thoracic skeleton may cause mediastinal involvement resulting in pericardial or pleural effusions. This may be due to the patient suffering from a combination of lymphangiomatosis (LYMF) and Gorham’s disease.
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