DOI: 10.1148/radiol.2383032126
(Radiology 2006;238:1066-1069.)
© RSNA, 2006
Case 92: Gorham Syndrome1
Jannette Collins, MD, MEd
1 From the Department of Radiology, University of Wisconsin Hospital and Clinics, E3/311 Clinical Science Center, 600 Highland Ave, Madison, WI 53792-3252. Received January 2, 2004; revision requested March 2; revision received March 9; accepted March 26.
Address correspondence to the author (e-mail: j.collins{at}hosp.wisc.edu).
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History
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A 31-year-old woman had a 2-month history of exertional dyspnea, wheezing, dry cough, and a feeling of chest heaviness. She had no chest pain, history of trauma, or symptoms of upper respiratory infection, such as fever, chills, sweats, head congestion, nasal drainage, or sinus pain. Her vital signs were normal, and physical examination revealed clear lungs and no lymphadenopathy. The presumptive diagnosis was asthma. Chest radiography was performed and was followed by computed tomographic (CT) examination of the chest. Thoracentesis revealed a chylous pleural effusion, and a right pleural drainage catheter was placed. An echocardiogram showed a large pericardial effusion with signs of tamponade physiology, and a pericardial drain was placed. Lymphangiography was performed, and chest CT was performed after lymphangiography.
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Imaging Findings
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Chest radiography (Fig 1) revealed an enlarged cardiac silhouette that was representative of pericardial effusion, as noted at echocardiography. Right pleural effusion was also present. Chest CT (Fig 2) revealed a large right pleural effusion and abnormal soft tissue in the anterior mediastinum. It also revealed the moth-eaten appearance of several upper thoracic ribs and vertebral bodies. Lymphangiography was performed and revealed a normal thoracic duct and multiple abnormal areas of contrast material pooling in the mediastinum and right chest wall. Chest CT performed after lymphangiography (Fig 3) revealed bilateral pleural effusions and lymphangiographic contrast material in the anterior mediastinum, along the pleural surfaces, adjacent to upper posterior ribs and the thoracic spine, and extending from the hila into the lung parenchyma along the bronchovascular bundles.
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Figure 1: Posteroanterior chest radiograph shows an enlarged cardiac silhouette and normal pulmonary vasculature. Several right posterior ribs (arrows) had areas suggestive of mottling and appeared smaller than the corresponding left posterior ribs.
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Figure 2a: Transverse CT scans of the chest obtained after administration of intravenous contrast material. (a) Scan obtained with soft-tissue window settings (window width, 350 HU; window level, 35 HU) at the level of the carina shows a large right pleural effusion and abnormal soft tissue (arrow) in the anterior mediastinum. (b) Scan obtained with bone window settings (window width, 1873 HU; window level, 397 HU) at the level of the lung apices shows mottling (arrows) of a posterior right rib and adjacent vertebral body.
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Figure 2b: Transverse CT scans of the chest obtained after administration of intravenous contrast material. (a) Scan obtained with soft-tissue window settings (window width, 350 HU; window level, 35 HU) at the level of the carina shows a large right pleural effusion and abnormal soft tissue (arrow) in the anterior mediastinum. (b) Scan obtained with bone window settings (window width, 1873 HU; window level, 397 HU) at the level of the lung apices shows mottling (arrows) of a posterior right rib and adjacent vertebral body.
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Figure 3: Transverse CT scan of the chest obtained after lymphangiography at the level of the great vessels shows lymphangiographic contrast enhancement (arrows) in the anterior mediastinum, along the pleural surfaces, and adjacent to a posterior right rib and adjacent vertebral body.
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Discussion
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Gorham syndrome (also known as Gorham-Stout syndrome, massive osteolysis, idiopathic osteolysis, disappearing bone disease, phantom bone disease, vanishing bone disease, spontaneous absorption of bone, progressive atrophy of bone, or hemangiomatosis or lymphangiomatosis of bone) is a rare disorder characterized by proliferation of thin-walled vascular channels associated with regional osteolysis. In 1838, Jackson (1) reported complete osteolysis of the humerus in a 12-year-old boy. In 1955, Gorham and Stout (2) described the main pathologic features of this disease as "vanishing bone disease associated with intraosseous vascular changes."
This disease starts in bone tissue, but it may secondarily involve soft tissue and adjacent bones. To our knowledge, fewer than 200 cases have been reported. This disease may occur at any age; however, it is most often recognized in children and young adults, with no sex predilection or inheritance pattern (3,4). The cause of this disease is unknown, although it is nonfamilial and 57% of patients have a history of trauma (5). Massive and progressive osteolysis is caused by the proliferation of abnormal thin-walled endothelial-lined capillaries of vascular or lymphatic origin. The mechanism of bone resorption is unknown. Some investigators have found increased osteoclastic activity, whereas others have not (6,7). The skeletal distribution of the disease has been widespread, but the upper arm or shoulder girdle (26%) and mandible (15%) have been favored sites (5). Skeletal involvement is virtually always monocentric, and involvement of adjacent bones occurs by means of direct spread. Laboratory findings are usually normal. To our knowledge, only one case of documented malignant degeneration of the disease has been reported (8) in a patient who also had a hypernephroma. Clinical signs are usually mild compared with radiologic changes.
Radiographically, the earliest changes are foci of intramedullary and subcortical lucency resembling osteoporosis (5). Concentric reduction results in tapering of involved long bones. This is followed by complete resorption of the involved bone in severe cases. A typical and notable finding is the lack of sclerosis or osteoblastic reaction. CT is useful in the delineation of the soft-tissue extension, and it enables biopsy guidance. Three-dimensional CT reconstructions have been valuable to the orthopedic surgeon planning a reconstruction attempt (9). Lymphangiography has been used to assess the thoracic duct in patients with chylothorax. The lymphatic vessels and nodes have a normal appearance, although altered lymphatic flow can lead to obstruction and edema (10). Angiography depicts absence of neovascularity in the involved area. Images obtained with nuclear bone scanning reportedly show normal radionuclide uptake throughout the entire skeleton (10) or increased radionuclide uptake in affected areas (6). MR images show morphologic disappearance of bone and areas of increased or decreased signal intensity, which may represent hemorrhage at different stages (10).
The differential diagnosis of Gorham syndrome includes skeletal angioma, angiosarcoma, essential osteolysis, and hereditary osteolysis. Skeletal angioma can cause osteolysis, and histologic findings of skeletal angiomas may be similar to those of Gorham syndrome. However, skeletal angiomas have limited growth potential, tend to preserve the bone cortex, and do not spread into adjacent soft tissue. Even well-differentiated angiosarcomas show focal cellular areas with nuclear atypia. Endothelial cells in patients with angiosarcoma tend to proliferate and produce papillary or focally solid patterns, whereas the vascular channels in patients with Gorham syndrome are lined by a single layer of flattened endothelial cells. The radiologic appearances of skeletal angioma and angiosarcoma can be similar to that of Gorham syndrome, but association with large pleural effusions—particularly in the absence of pulmonary metastases—is not a feature of angioma or angiosarcoma.
The results of several reviews indicate that the major causes of malignant pleural effusion are pulmonary, breast, ovarian, and gastric carcinoma and lymphoma, with pulmonary carcinoma, breast carcinoma, and lymphoma accounting for 75% of all malignant pleural effusions (11). Essential osteolysis is characterized by resorption of carpal bones, tarsal bones, or both, with progressive renal failure. The renal failure, multifocality, and absence of vascular proliferation within the involved bones distinguish essential osteolysis from Gorham syndrome. Hereditary osteolysis occurs in childhood, lacks vascular proliferation, involves primarily the hands and feet, and tends to be multicentric (5). Osteolysis may also result from systemic diseases, such as rheumatoid arthritis, syphilis, and hyperparathyroidism; however, these disorders are histologically and clinically distinct from Gorham syndrome (5). Finally, myeloma and lymphoma should be considered, as they are common diseases that can cause a moth-eaten appearance. Patients with these diseases generally have associated clinical and radiologic findings that aid in making the correct diagnosis.
Chylothorax is a rare complication. To our knowledge, only 25 cases have been reported, 10 of which were bilateral. Chylothorax is usually associated with shoulder girdle or thoracic vertebral bony osteolysis (4). Chylothorax results from invasion of the thoracic duct or communication of the lymphatic dysplasia with the pleural cavity. Management of chylothorax with drainage, parenteral feeding, or corticosteroid or radiation therapy is often ineffective, with a 64% mortality rate (5,7). Bilateral chylothorax as a complication of Gorham syndrome is almost always fatal, with death usually occurring from malnutrition, lymphopenia, and superimposed infection (12). Surgical treatment is reported to have a mortality rate of 36% (6). Surgery usually consists of ligation of the thoracic duct and pleurectomy to treat the pleural lymphatic dysplasia. Remission rates as high as 60% are reported with radiation dosages of 40–45 Gy delivered in daily 2-Gy doses (13). One case of chylothorax was successfully treated with clodronate and interferon alfa 2b (14). Interferon alfa was assumed to be effective because of its antiangiogenic properties and success in treatment of disorders with vessel proliferation. In this case, the patient was treated successfully with bilateral chest tubes, two rounds of pleurodesis with talc, pericardial drainage, total parenteral nutrition, and 33-Gy external beam radiation therapy in the mediastinum (terminated early secondary to radiation pneumonitis).
Mediastinal lymphangioma has been rarely associated with Gorham syndrome. In one reported case (15) where thoracic involvement of Gorham syndrome was complicated by chylothorax in a patient with mediastinal lymphangioma, CT depicted a well-defined low-attenuation mediastinal mass, infiltrating mediastinal fat, and enveloping mediastinal structures. In the present case, CT revealed extensive infiltration of the anterior mediastinum; on the basis of this finding, the diagnosis of lymphoma was considered. Biopsy of the mediastinal mass revealed thymic tissue with germinal centers but no evidence of neoplasm. It was not until rib biopsy showed lymphangiomatosis that Gorham syndrome was diagnosed.
In a review by Choma et al (5), 16 patients (16%) died as a direct result of the disease. Of these 16 patients, 10 died of chest wall involvement; three, of spinal cord transection; two, of sepsis; and one, of asphyxia and aspiration. In the same review, five of nine patients with chylothorax died of the disease (5). A review of all reported cases of Gorham syndrome with chylothorax supports the need for prompt and aggressive surgical intervention if the patient is to survive (6).
Gorham syndrome is a combined clinical, radiologic, and histologic entity. Radiologic findings are especially important in the diagnosis of Gorham syndrome and, in this case, included lytic areas involving contiguous bones of the thorax and evidence of pleural effusion (chylothorax).
Congratulations to the 124 individuals and three resident groups who submitted the most likely diagnosis (Gorham syndrome) for Diagnosis Please, Case 92. The names and locations of the individuals and resident groups, as submitted, are as follows:
Individual responses
- Hisashi Abe, Osaka, Japan
- Gholamali Afshang, MD, Tinley Park, Ill
- Dr Jorge Ahualli, Tucumán, Argentina
- Albert J. Alter, Madison, Wis
- Roger L. Antonelli, MD, Dayton, Ohio
- Ken Baliga, Rockford, Ill
- Gregory J. Balmforth, Tucson, Ariz
- Sanjay Bhat, Temple, Tex
- Dr Med Wolfgang Justus Brauer, Emmendingen, Germany
- Eric L. Bressler, MD, Minnetonka, Minn
- Ghislain Brousseau, MD, Charlesbourg, Quebec, Canada
- Michael P. Buetow, MD, Okemos, Mich
- Peter Buetow, Bellingham, Wash
- Stephen J. Buetow, MD, Evans, Ga
- Paula Campos, MD, Cascais, Portugal
- Dr Carlos E. Canga, Córdoba, Argentina
- Nelson M. G. Caserta, MD, São Paulo, Brazil
- Luisa F. Cervantes, Miami, Fla
- Neal R. Conti, MD, Seattle, Wash
- Y. S. Cordoliani, MD, Paris, France
- Pierre-Luc Côté, MD, Montreal, Quebec, Canada
- Trupti Prabhu Dabholkar, MD, Nassau, Bahamas
- Peter C. De Baets, MD, Damme, Belgium
- J. F. K. de Villiers, Gisborne, New Zealand
- Mustafa Kemal Demir, Istanbul, Turkey
- Susana Dias, Porto, Portugal
- Sathish Kumar Dundamadappa, Shrewsbury, Mass
- Shella Farooki, MD, Dublin, Ohio
- Michael Fennell, Ashland, Ore
- Francis Flaherty, MD, Ridgefield, Conn
- Robert J. Fleck, Jr, Cincinnati, Ohio
- Jordi Catala Forteza, Barcelona, Spain
- Ángeles Franco, Madrid, Spain
- Irwin M. Freundlich, MD, Tucson, Ariz
- Akira Fujikawa, MD, Tokyo, Japan
- Ann S. Fulcher, MD, Richmond, Va
- Dr Cristine Norwig Galvão, São Paulo, Brazil
- William Gawman, Waterloo, Ontario, Canada
- Gilles Genin, MD, Annecy, France
- Ted Glass, MD, Ridgeland, Miss
- Alvaro Gomez Naar, Salta, Argentina
- Dan Gridley, MD, Phoenix, Ariz
- Pramod Gupta, MD, Arlington, Tex
- Ferris M. Hall, MD, Boston, Mass
- Yukihiro Hama, MD, PhD, Bethesda, Md
- Helen T. Ho, MD, Chicago, Ill
- Alberto Iaia, MD, Wilmington, Del
- Joao Rodrigues Inacio, Lisbon, Portugal
- Kiriakos Kalampoukas, Konzai, Greece
- S. Pinar Karakas, New Hyde Park, NY
- Nurettin Katranci, MD, Antalya, Turkey
- Craig D. Kesack, Doylestown, Pa
- Arlene Klink, MD, Irvine, Calif
- Mark Kutler, MD, Dallas, Tex
- Stefanos Lachanis, MD, Athens, Greece
- Alexis Lacout, MD, Paris, France
- Mario Laguna, West Allis, Wis
- Matias Landi, Buenos Aires, Argentina
- Karl-Juergen Lehmann, Karlsruhe, Germany
- Donald R. Lewis, Jr, MD, Huntington, WV
- John T. Lim, MD, Newport Coast, Calif
- David A. Lisle, Brisbane, Australia
- Patricia Lowry, MD, Richmond, Va
- Bart Maes, MD, Tongeren, Belgium
- Stephen Manghisi, MD, Closter, NJ
- N. B. S. Mani, MD, Nassau, Bahamas
- Alberto A. Marangoni, MD, Córdoba, Argentina
- Waldir Heringer Maymone, Rio de Janeiro, Brazil
- Jonathan Meyer, MD, Chicago, Ill
- Manabu Minami, MD, Ibaraki, Japan
- Ari Mintz, MD, Lake Forest, Ill
- Eduardo Mondello, MD, Buenos Aires, Argentina
- S. Namasivayam, Atlanta, Ga
- Tammam Nehme, East Wenatchee, Wash
- Mizuki Nishino, MD, Boston, Mass
- Edward S. Oh, Tucson, Ariz
- Anietie Okon, MD, Coralville, Iowa
- Laura Oleaga, Bilbao, Spain
- Mike T. O'Loughlin, MD, West Hartford, Conn
- Sanford M. Ornstein, MD, Phoenix, Ariz
- Neeraj J. Panchal, MD, San Diego, Calif
- David M. Panicek, MD, New York, NY
- Narendrakumar P. Patel, MD, Newburgh, NY
- Suresh K. Patel, Chicago, Ill
- Juan Carlos Pernas, MD, Barcelona, Spain
- Ivan Pilate, MD, Mechelen, Belgium
- Hilton Pittman, Pensacola, Fla
- Rubem Pochaczevsky, MD, Bronx, NY
- Dr Sanjay P. Prabhu, Bristol, United Kingdom
- Shawn P. Quillin, MD, Charlotte, NC
- Ilangovan Rajapandian, London, United Kingdom
- Daniel Rappaport, MD, FRCPC, Toronto, Ontario, Canada
- Javier Rodríguez Lucero, MD, Rosario, Argentina
- Steven Schepers, Herent, Belgium
- Frédéric Schneider, Lausanne, Switzerland
- Steven M. Schultz, MD, Fort Worth, Tex
- Dr Mustafa Secil, Izmir, Turkey
- Matt Shapiro, MD, Charlottesville, Va
- Robert H. Sherrier, MD, Boulder, Colo
- Taro Shimono, MD, Osaka, Japan
- Grady Shue, Bethesda, Md
- Ken Simmons, Sydney, Australia
- Stephen Horatio Slawson, RPh, MD, Joplin, Mo
- J. M. Speckman, MD, Gainesville, Fla
- James D. Sprinkle, Jr, MD, Spotsylvania, Va
- Scott D. Steenburg, MD, Mount Pleasant, SC
- C. V. Subbarao, MD, Nassau, Bahamas
- Kouichi Sugiyama, Hamamatsu, Japan
- Amit Suri, Norfolk, United Kingdom
- Gilberto Szarf, São Paulo, Brazil
- Norio Takahashi, MD, Fukui, Japan
- Eliko Tanaka, Yokohama, Japan
- Atsushi Tani, Kagoshima, Japan
- Douglas L. Teich, MD, Brookline, Mass
- Eugene Tong, MD, Austin, Tex
- William C. Torreggiani, Dublin, Ireland
- Meriç Tüzün, Ankara, Turkey
- Dr Ricardo Videla, Córdoba, Argentina
- Joan C. (Kai) Vilanova, MD, Girona, Spain
- Christopher Vittore, MD, Rockford, Ill
- Silvio Vollmer, Rio Negro, Argentina
- Ensar Yekeler, Istanbul, Turkey
- Sevim Y
ldz, Antalya, Turkey
- Yu Zhang, San Francisco, Calif
Resident group responses
- Hospital Italiano de Cordoba Radiology Residents, Córdoba, Argentina
- Hospital of the University of Pennsylvania Radiology Residents, Philadelphia, Pa
- Oregon Health & Science University Radiology Residents, Portland, Ore
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FOOTNOTES
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| Part one of this case appeared 4 months previously and may contain larger images.
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References
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- Jackson JBS. A boneless arm. Boston Med Surg J 1838;18:368–369.
- Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis. J Bone Joint Surg Am 1955;37-A:985–1004.[Abstract/Free Full Text]
- Touraine R, Bernard JP, Trouillier JP, Balandreau AM. Chylothorax and Gorham's disease (or regional massive osteolysis). J Fr Med Chir Thorac 1971;25:315–326.[Medline]
- Chavanis N, Chaffanjon P, Frey G, Vottero G, Brichon PY. Chylothorax complicating Gorham's disease. Ann Thorac Surg 2001;72:937–939.[Abstract/Free Full Text]
- Choma ND, Biscotti CV, Bauer TW, Mehta AC, Licata AA. Gorham's syndrome: a case report and review of the literature. Am J Med 1987;83:1151–1156.[CrossRef][Medline]
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- Fretz CJ, Jungi WF, Neuweiler J, Haertel M. Maligne degeneration eines morbus Gorham-Stout? Rofo 1991;155:579–581.[Medline]
- Vinee P, Tanyu O, Hauenstein KH, Sigmund G, Stover B, Adler CP. CT and MRI of Gorham Syndrome. J Comput Assist Tomogr 1994;18:985–989.[Medline]
- Dominguez R, Washowich TL. Gorham's disease or vanishing bone disease: plain film CT, and MRI findings of two cases. Pediatr Radiol 1994;24:316–318.[CrossRef][Medline]
- Vargas FS, Teixeira LR. Pleural malignancies. Curr Opin Pulm Med 1996;2:335–340.[Medline]
- Riantawan P, Tansupasawasdikul S, Subhannachart P. Bilateral chylothorax complicating massive osteolysis (Gorham's syndrome). Thorax 1996;51:1277–1278.[Abstract]
- Dunbar SF, Rosenberg A, Mankin H, Rosenthal D, Suit HD. Gorham's massive osteolysis: the role of radiation therapy and a review of the literature. Int J Radiat Oncol Biol Phys 1993;26:491–497.[Medline]
- Hagberg H, Lamberg K, Astrom G. Alpha-2b interferon and oral clodronate for Gorham's disease. Lancet 1997;350:1822–1823.[Medline]
- Yoo SY, Goo JM, Im JG. Mediastinal lymphangioma and chylothorax: thoracic involvement of Gorham's disease. Korean J Radiol 2002;3:130–132.[Medline]
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History
Imaging Findings
