National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gorham's disease

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Other Names:
Cystic angiomatosis of bone diffuse; Gorham-Stout syndrome; Gorham-Stout disease; Cystic angiomatosis of bone diffuse; Gorham-Stout syndrome; Gorham-Stout disease; Osteolysis massive; Vanishing bone disease See More
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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.[1] 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.[1] 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).[2]
Last updated: 3/1/2017
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.[1]

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).[1] This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure.[3]
Last updated: 3/1/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cystic angiomatosis of bone 0002833
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Last updated: 7/1/2020
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.[3]

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.[3] 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.[4] 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.[1][2][4]

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.[3]
Last updated: 3/1/2017
The course of Gorham's disease varies among affected people. The rate of progression and long-term outlook (prognosis) can be hard to predict.[2][1] 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.[2]

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.[1]
Last updated: 9/2/2016
Gorham’s disease is very rare, and some cases may be misdiagnosed or undiagnosed. [3][1] Because of this, it isn't known exactly how many people are affected.[3] As of 2016, there is a discrepancy between the number of cases reported in literature reviews, ranging from 64 to 200 cases.[4] However, there is consensus building that there are many more cases than have been reported. It may occur at any age, but is most often diagnosed in children and young adults.[3] Some sources state that males are affected more often than females. Other sources state that the ratio is even.[1]
Last updated: 3/1/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes generalized lymphatic anomaly (the major distinguishing characteristic is the progressive osteolysis seen in GSD), acroosteolysis dominant type, multicentric carpo-tarsal osteolysis with or without nephropathy, autosomal recessive carpotarsal osteolysis, hereditary sensory and autonomic neuropathy type 2, Farber lipogranulomatosis, Torg-Winchester syndrome, and idiopathic phalangeal acro-osteolysis (see these terms). Other causes of osteolysis such as infection, cancer (primary or metastatic), inflammatory or endocrine disorders should also be considered.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gorham's disease. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is this condition fatal in some cases? What is the prognosis? See answer

  • I am researcher and I'm looking for more information about Gorham Stout disease. See answer


  1. Gorham-Stout Disease. National Organization for Rare Disorders (NORD). 2017; http://rarediseases.org/rare-diseases/gorham-stout-disease/.
  2. 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.
  3. What is Gorham’s Disease?. Lymphangiomatosis & Gorham's Disease Alliance. http://www.lgdalliance.org/patient-professional-resources/what-is-gorhams-disease/.
  4. Franco-Barrera MJ, Zavala-Cerna MG, Aguilar-Portillo G, Sánchez-Gomez DB, Torres-Bugarin O, Franco-Barrera MA, Roa-Encarnacion CM. Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion. Clin Rev Allergy Immunol. February, 2017; 52(1):125-132. https://www.ncbi.nlm.nih.gov/pubmed/28004375.