Gorham Stout Disease | Symptoms & Causes

What causes Gorham-Stout disease?

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 possibly identify a mutation that could cause the lymphatic and bone disorder.

What are the symptoms of Gorham-Stout?

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, your child may have Gorham-Stout only in the bones of his or her shoulder and arm, but nowhere else in the body.

Bones commonly affected by Gorham-Stout include:

  • ribs
  • spine
  • pelvis
  • skull
  • collarbone (clavicle)
  • shoulder
  • jaws

The signs and symptoms of Gorham-Stout can vary widely and can range from mild to severe, depending on the location of the disease and the bones and soft tissues it affects.

A common early sign of the disease is pain and swelling near the affected region without any clear cause. Other children 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, but these are simply symptoms of the progressive bone loss.

Other symptoms that vary by location include:

Gorham-Stout in the ribs or thoracic vertebrae:

  • breathing difficulty
  • chest pain
  • weight loss
  • chylothorax, a condition where a lymphatic fluid called chyle leaks into and accumulates in the chest, leading to infection or respiratory distress

Gorham-Stout in the spine and skull:

  • neurological complications
  • acute spinal pain
  • paralysis (depending on which vertebrae it affects and how far the disease has progressed)
  • occasionally, spinal fluid leak

Gorham-Stout in the jaw (maxillofacial bones):

  • jaw pain
  • loose teeth
  • fractures and facial deformity