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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gorham's disease


Other Names for this Disease
  • Cystic angiomatosis of bone diffuse
  • Gorham-Stout disease
  • Gorham-Stout syndrome
  • Osteolysis massive
  • Vanishing bone disease
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What is Gorham's disease?

Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis) often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.[1] It may affect any part of the skeleton, but most commonly involves the skull, shoulder, and pelvic girdle.  The cause of Gorham's disease is currently unknown. No familial predisposition has been found. Because of the rarity of this disease, there is not standard therapy available. The main methods of treatment are surgery and radiation therapy. In some cases, Gorham's disease has improved without treatment (spontaneous remission).[2]
Last updated: 10/6/2011

What are the signs and symptoms of Gorham's disease?

Gorham's disease can involve men or women and any age group, although most cases are discovered before the age of 40. Normally bones replenish themselves. But in Gorham's disease, bone loss occurs and progresses in certain areas of the body but no new bone takes its place. This may occur in just one bone or may spread to other areas of the affected bone. Instead of the bone reforming, fibrous tissue may develop in areas of bone loss. Angiomas often occur in conjunction with bone loss, which causes swelling.  An angioma is abnormal growth of tissue formed by small blood or lymphatic vessels.[1] 

Symptoms associated with Gorham's disease vary and depend on the specific area of the body involved. This condition may affect any part of the skeleton; but 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 individuals 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, however, never experience symptoms.[1]

When the lower jaw, upper jaw, tooth sockets, or other bones in the face, neck or head are affected, symptoms may include pain, loose teeth, fractures, facial deformity, and/or recurrent meningitis. [1]

Complications from Gorham's disease may occur when fluids build-up (pleural effusion) in the space between the membrane that surround each lung and line the chest cavity (chylothorax).[1] This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure.[3]

The rate of progression is unpredictable and the prognosis can be difficult to determine. The disease can stabilize after a number of years, go into spontaneous remission, or be fatal. Recurrence can also occur. Involvement of the spine and skull base may cause a poor outcome from neurological complications. In most cases, bone resorption stops on its own after a variable number of years.[2]
Last updated: 10/6/2011

How might Gorham disease be treated?

No specific therapy exists for individuals with Gorham's disease. Different 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 at all.[3]

Most people, however, 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.[3] Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms such as pain in some cases. More research is necessary, however, to determine the long-term safety and effectiveness of these therapies in individuals with Gorham's disease.[1][2] 

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 reported to be proven effective for arresting this disease and there are no known treatments that prevent or control the disease itself.[3]
Last updated: 2/21/2014

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