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The cause of Gorham-Stout is unknown. There is no evidence that the disease is hereditary or caused by environmental factors. However, active research is underway at Boston Children’s and other institutions to study genetic links to possibly identify a mutation that could cause the lymphatic and bone disorder. Read more about Gorham-Stout research.
Gorham-Stout may affect multiple bones, but in most cases it is a regional disease – meaning it stays in one region of the body. For example, a patient may have Gorham-Stout only in the bones of her shoulder and arm, but nowhere else in the body.
Bones commonly affected by Gorham-Stout include:
The signs and symptoms of Gorham-Stout can vary widely by patient. Because the disorder can affect any region of the body, symptoms can be mild to severe, depending on its location and which bones and soft tissues it affects.
An early sign in many patients is pain and swelling near the affected region without any clear cause. Other patients may experience no symptoms until suffering a spontaneous fracture after minor trauma to the bone. A common misbelief is that Gorham-Stout disease is caused by fractures; these are simply a symptom of the progressive bone loss.
Other symptoms that vary by location include:
Because signs and symptoms of Gorham-Stout can vary so widely or be mistaken for other conditions, diagnosis can be challenging. At Boston Children’s Hospital, our team has extensive experience diagnosing this rare disorder. Learn more about Gorham-Stout diagnosis.
Reviewed by Cameron Trenor, MD, © Boston Children’s Hospital
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