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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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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.[2]

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.[3]
Last updated: 10/6/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Gorham's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the skeletal system -
Autosomal dominant inheritance -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Gorham's disease. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/832/viewAbstract. Accessed 10/6/2011.
  2. What is Gorham’s Disease?. Lymphangiomatosis & Gorham's Disease Alliance. http://www.lgdalliance.org/patient-professional-resources/what-is-gorhams-disease/. Accessed 12/6/2011.
  3. Gondivkar SM, Gadbail AR. Gorham-Stout syndrome: a rare clinical entity and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010; 109(2):e41-48. http://www.ncbi.nlm.nih.gov/pubmed/19969488. Accessed 10/6/2011.


Other Names for this Disease
  • Cystic angiomatosis of bone diffuse
  • Gorham-Stout disease
  • Gorham-Stout syndrome
  • Osteolysis massive
  • Vanishing bone disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.