Information on the following diseases can be found in the Related Disorders section of this report:

• Osteonecrosis
• Gaucher Disease
• Kienboeck Disease
• Legg-Calve-Perthes Syndrome

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).

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).

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.

Symptoms of the following disorders can be similar to those of Gorham's disease. Comparisons may be useful for a differential diagnosis:

Many different disorders and conditions may cause bone loss similar to that seen in Gorham’s disease. These disorders include cancer and certain inflammatory and endocrine disorders. A variety of syndromes may be associated with osteolysis including Hajdu-Cheney syndrome, Winchester syndrome, neurogenic osteolysis, acro-osteolysis of Joseph, acro-osteolysis of Shinz, and Farber’s disease.

Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteolysis), is a major characteristic of HCS. In addition, patients with HCS frequently have skull deformities, short stature, joint laxity, reduction of bone mass (osteoporosis) and other signs. Most affected individuals have normal mental development but a small proportion show mild mental retardation. Although the majority of cases are of unknown cause, the presence of multiple cases in one family suggests that autosomal dominant genetic transmission may be possible. (For more information on this disorder, choose "Hajdu-Cheney" as your search term in the Rare Disease Database.)

Winchester syndrome is an extremely rare connective tissue disorder believed by some scientists to be closely related to the mucopolysaccharidoses, which is a group of hereditary metabolic diseases caused by the absence or malfunction of certain enzymes, leading to the accumulation in cells and tissues of molecules that would normally be broken down into smaller units. This syndrome is characterized by short stature, arthritis-like symptoms, eye and teeth abnormalities, coarse facial features, and the formation of nodules under the skin (subcutaneous). Affected individuals may also experience bone loss (osteolysis) of the carpal and tarsal bones and thinning and loss of protein of bones (osteoporosis). Winchester syndrome is believed to be inherited as an autosomal recessive trait. (For more information on this disorder, choose "Winchester" as your search term in the Rare Disease Database.)

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.

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

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.

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