Gorham's Disease

Gorham's Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Gorham's Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Disappearing Bone Disease
  • Gorham's Syndrome
  • Gorham-Stout Syndrome
  • Idiopathic Massive Osteolysis
  • Massive Gorham Osteolysis
  • Massive Osteolysis
  • Morbus Gorham-Stout Disease
  • Progressive Massive Osteolysis
  • Vanishing Bone Disease
  • Essential Osteolysis

Disorder Subdivisions

  • None

General Discussion

Gorham's disease (GD) is an extremely rare bone disorder; fewer than 200 cases are reported in the medical literature. It 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.



Although the disease may strike any of the bones of the body, it is more often recognized earlier when the bones at the top of the head (calvarium) and/or the mandibles are involved.



Because of its rarity, the disorder often goes unrecognized. As a result of that, coupled with a lack of agreement on how best to treat Gorham's disease once it is recognized, treatment may often be delayed. The cause of Gorham's disease is unknown.

Symptoms

Gorham's disease is an extremely rare bone disorder. Normally bones replenish themselves through a cycle of bone dissolution and regrowth. In people with Gorham's disease bone loss occurs and progresses in certain areas of the body but no new bone growth takes place. This may occur in just one bone or may spread to adjacent areas of the affected bone.



Instead of bone reforming, fibrous tissue may develop in areas of bone loss. If fractures occur, which is common in this disorder, the disease may progress more quickly. Angiomas often occur in Gorham's disease in conjunction with bone loss. An angioma is abnormal growth of tissue formed by small blood or lymphatic vessels. Angiomas cause swelling.



Specific symptoms associated with Gorham's disease depend upon the specific areas of the body involved. Bone loss may occur in such places as the hand, arm, shoulder, ribs, a part of the pelvis (hemipelvis), thighbone (femur), or jaw. The shoulder and pelvis are most commonly affected.



In some cases, affected individuals may rapidly develop pain and swelling in the affected area. In other cases, affected individuals may experience a dull pain or ache or generalized weakness that builds over time.



When the lower jaw, upper jaw, tooth sockets, or other bones in the face, neck or head are affected possible symptoms may include pain, loose teeth, fractures, facial deformity, and/or recurrent meningitis. (For more information choose "meningitis" as your search term in the Rare Disease Database).



A particularly virulent form of 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).



In some cases, Gorham's disease has improved without treatment (spontaneous remission).

Causes

The exact cause of Gorham's disease is unknown but clinical research is ongoing in an attempt to understand the causes of this disorder. Some researchers speculate that, as a result of a trauma of some sort, the blood supply to a bone or bones increases, upsetting the balance between bone building cells (osteoblasts) and bone destroying cells (osteoclasts). The bone destroying cells predominate, and thus bone loss (resorption) outpaces bone production.



It is the relationship between Gorham disease and the blood supply to the bones, that leads some experts to classify Gorham's disease among the family of disorders dealing with the proliferation of blood vessels (hemangiomas).

Affected Populations

Gorham's disease is an extremely rare bone disorder. It affects males slightly more often than females, and occurs in all age groups. It occurs most often in children and young adults (e.g., individuals under 40 years of age). The incidence of Gorham's disease is unknown.

Standard Therapies

Diagnosis

A diagnosis of Gorham's disease is made based upon a thorough clinical evaluation, a detailed patient history and a variety of tests. Testing for Gorham's disease includes imaging techniques such as X-rays or computed tomography (CT) scans or magnetic resonance imaging (MRI). Diagnosis is affirmed by surgical excision and microscopic examination of affected tissue (biopsy).



Treatment

No specific therapy exists for individuals with Gorham's disease. Treatment options include radiation, surgery that may involve bone grafting and/or the use of steroids.



Fluid build-up (pleural effusion) in the membrane surrounding each lung and lining the chest cavity must be treated by draining the fluid.



Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



Scientists are trying to find the cause of Gorham's disease by studying the cells and enzymes that may be related to it. Research is ongoing.



According to the medical literature some individuals with Gorham's disease have been treated with biphosphates such as pamidronate or zoledronic acid. Some individuals have been treated with alpha-2b interferon. These treatments have led to improvement of symptoms (e.g., pain) in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies for individuals with Gorham's disease.

References

REVIEW ARTICLES

Aizawa T, Sato T, Kokubun S. Gorham disease of the spine: a case report and treatment strategies for this enigmatic bone disease. Tohoku J Exp Med. 2005;205:187-96.



Fujiu K, Kanno R, Suzuki H, et al. Chylothorax associated with massive osteolysis (Gorham's syndrome). Ann Thorac Surg. 2002;73:1956-57.



Benhalima H, Lazrak A, Boulaich M, et al. Massive osteolysis of the maxillo-facial bones: case report and review of the literature. Odontostomatol Trop. 2001;24:35-40.



Wenger DE, Wold LE. Benign vascular lesions of bone: radiologic and pathologic features. Skeletal Radiol. 2000;29:63-74.



JOURNAL ARTICLES

Patel DV. Gorham's disease or massive osteolysis. Clin Med Res. 2005;3:65-74.



Hammer F, Kenn W, Wesselmann U, et al., Gorham-Stout disease - stabilization during biphosphonate treatment. J Bone Miner Res. 2005;20:350-3.



Mignogna MD, Fedele S, Lo Russo L, Ciccarelli R. Treatment of Gorham's disease with zoledronic acid. Oral Oncol. 2005;41:747-50.



Duffy BM, Manon R, Patel RR, Welsch JS. A case of Gorham's disease with chylothorax treated curatively with radiation therapy. Clin Med Res. 2005;3:83-6.



Krohel GB, Freedman K, Peters GB 3rd et al. Gorham disease of the orbit. Am J Ophthalmol. 2002;133:729-30.



Yoo SY, Hong SH, Chung HW, et al. MRI of Gorham's disease: findings in two cases. Skeletal Radiol. 2002;31:301-06.



Hirayama T, Sabokar A, Itonaga I, et al. Cellular and humeral mechanisms of osteoclast formation and bone resorption in Gorham-Stout disease. J Pathol. 2001;195:624-30.



Chavanis N, Chaffanjon P, Frey G, et al. Chylothorax complicating Gorham's disease. Ann Thorac Surg. 2001;72:937-39.



Rao P, Kotwal PP, Goel S. Painless destruction of the shoulder joint: a case report. Clin Rheumatol. 2001;20:143-46.



Moller G, priemel M, Amling M, et al. The Gorham-Stout syndrome (Gorham's massive osteolysis). A report of six cases with histopathological findings. J Bone Joint Surg Br. 1999;81:501-06.



FROM THE INTERNET

Clough JFM, Donaldson GWK, McNeely B. Management of a fracture in a known case of Gorham's vanishing bone disease. Surgery and Orthopedics Poster Session. INABIS '98. Internet World Congress '98.

www.mcmaster.ca/inabis98/surgeryortho/clough0143/index.htlm

Resources

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

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Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

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Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

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Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Lymphangiomatosis & Gorham's Disease Alliance

19919 Villa Lante Place

Boca Raton, FL 33434

Tel: (561)441-9766

Email: info@lgdalliance.org

Internet: http://www.lgdalliance.org/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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