Symptoms and complications

What are the symptoms of Gorham’s disease?

The symptoms of Gorham’s disease vary depending on the bones involved. It may affect any part of the skeleton, but the most common sites of disease are the shoulder, skull, pelvic girdle, jaw, ribs, and spine.9, 14, 16, 17

In some cases there are no symptoms until a fracture occurs either spontaneously or following minor trauma, such as a fall. There may be:

  • an acute onset of localized pain
  • swelling

More commonly there is:

  • pain of no apparent cause that increases in frequency and intensity over time
  • and may eventually be accompanied by weakness; and
  • noticeable deformity of the area.

The rate of progression is unpredictable and the prognosis can be difficult. The disease may stabilize after a number of years, go into spontaneous remission, or, in cases involving the chest and upper spine, prove fatal. Recurrence of the disease following remission can also occur. Involvement of the spine and skull base may cause a poor outcome from neurological complications. In many cases, the end result of Gorham’s disease is severe deformity and functional disability.9, 14, 15

If the disease is present in the ribs, scapula, or thoracic vertebra there might be symptoms such as:

  • difficulty breathing
  • chest pain

These may indicate that the disease has spread from the bone into the chest cavity. The breathing problems may be misdiagnosed as asthma, because the damage done to the lungs can cause the same types of changes to lung function testing that are seen in asthma.16Extension of the lesions into the chest may lead to the development of chylous pleural and pericardial effusions. Chyle is rich in protein and white blood cells that are important in fighting infection. The loss of chyle into the chest can have serious consequences, including infection, malnutrition, and respiratory distress and failure.

These complications or their symptoms have sometimes been the first indications of the condition15, 16, 17, such as:

  • difficulty breathing
  • chest pain
  • poor growth
  • weight loss
  • infection



Source: (April 5th, 2016)