What is the definition of Gorham's Disease?

Gorham's disease is a rare bone disorder characterized by bone loss (osteolysis), often associated abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. Symtoms may include pain, swelling, and increased risk of fracture. It may affect any part of the skeleton, but most commonly involves the skull, collarbone (clavicle), pelvis, ribs, spine, and/or jaw. Depending on the bones affected, various complications may occur. The cause of Gorham's disease is currently unknown. Most cases occur sporadically. Treatment is based on the signs and symptoms in each affected person, and most commonly involves surgery and/or radiation therapy. In some cases, Gorham's disease improves without treatment (spontaneous remission).

What are the alternative names for Gorham's Disease?

  • Cystic angiomatosis of bone diffuse
  • Gorham-Stout syndrome
  • Gorham-Stout disease
  • Osteolysis massive
  • Vanishing bone disease

What are the symptoms for Gorham's Disease?

Most cases of Gorham's disease are discovered before the age of 40. Symptoms vary among affected people and depend on the area(s) of the body involved. The most commonly involved sites are the skull, jaw, shoulder, rib cage, and pelvis. The degree of complications ranges from mild to severe, or even life-threatening. In some cases, affected people may rapidly develop pain and swelling in the affected area, or a fracture on the affected site. Others may experience a dull pain or ache, limitation of motion, or generalized weakness that builds over time. Some people don't have any symptoms.

Complications from Gorham's disease may occur when fluids build-up in the space between the membrane that surround each lung and line the chest cavity (pleural effusion). This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure.

What are the current treatments for Gorham's Disease?

There is no specific therapy for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary.

Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options may include vitamin D and calcitonin supplements, radiation therapy, and/or surgery that may involve bone grafting. Some of the best outcomes reported have involved radiation therapy alone or in combination with surgery. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease.

All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.

What is the outlook (prognosis) for Gorham's Disease?

The course of Gorham's disease varies among affected people. The rate of progression and long-term outlook (prognosis) can be hard to predict. The disease can stabilize after a number of years, go into spontaneous remission (improve without treatment), or be fatal. Recurrence can also occur. In most cases, bone resorption stops on its own after a variable number of years.

When just the limbs or pelvis are affected, there generally is no threat to life. However, pulmonary involvement with chylothorax (a type of pleural effusion) or spinal involvement (causing neurological complications) may mean a poor prognosis, and can even lead to death.
  • Condition: Gorham-Stout Disease During the Recurrent Meningitis and Cholesteatoma
  • Journal: Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
  • Treatment Used: Conservative Treatment with Infection Control
  • Number of Patients: 1
  • Published —
This case report describes a 25-year-old male diagnosed with Gorham-Stout disease (bone disorder) with recurrent cerebrospinal leakage after surgery to treat cholesteatoma treated with conservative treatment with infection control.
  • Condition: Chylothorax with Unilateral Limb Swelling
  • Journal: BMJ case reports
  • Treatment Used: Drainage followed by Pleurodesis, Parenteral Nutrition and Radiotherapy
  • Number of Patients: 1
  • Published —
This case report discusses a 26-month male toddler diagnosed with right chylothorax (lymph fluid in lungs) and Gorham's syndrome treated with drainage of chylothorax followed by pleurodesis, parenteral nutrition and radiotherapy.