Vanishing Bone Disease: Review and Case Reports

Posted on November 18, 2008

By Stamatios A. Papadakis, MD, PhD; Lubna Khaldi, MD; Eleni C. Babourda, MD; Stefanos Papadakis, MD; Thomas Mitsitsikas, MD; George Sapkas, MD
ORTHOPEDICS 2008; 31:278

Characterized by spontaneous or post-traumatic progressive resorption of bone, vanishing bone disease is a rare entity. Since first being described in 1838,1 approximately 200 cases of vanishing bone disease have been reported in the literature (Table 1). Numerous names have been used in the literature to describe this condition such as phantom bone,2 massive osteolysis,3 disappearing or vanishing bone disease,4 acute spontaneous absorption of bone,5 hemangiomatosis, and lymphangiomatosis.6

Gorham and Stout2 presented the first overview of vanishing bone disease in 1955 and reported 24 cases. They concluded progressive osteolysis in those cases was associated with angiomatosis of blood or lymphatic vessels. This is now known as Gorham disease. The etiology remains speculative, the prognosis is unpredictable, and effective therapy still has not been determined.7

This article presents 2 cases of histologically studied vanishing bone disease involving the humerus and the femoral head and also provides an in-depth review of the literature.

Case Reports

Case 1

A 69-year-old woman presented with left upper extremity disability. Her history was significant for a fracture of the lower third of her left humerus at age 29. She underwent surgery that involved only bone grafting. One month postoperatively, the patient underwent open reduction and internal fixation with wires for continuous pain. Two months later, because of continued pain, she underwent a third operation in which the implant was removed and revised fracture reduction was performed.

Postoperatively, a brace was used for 2 months to stabilize the fracture; however, nonunion resulted. Although the pain persisted, the patient continued her usual activities. The pain was present for 1 year and was treated with analgesic drugs. Since then, each portion of the divided humerus began to diminish in size and shorten in length. The patient was disappointed with the poor results and had no further contacts with doctors.

The patient’s remaining history was noncontributory. Menopause occurred at age 47. Her parents died of unknown causes. She had no siblings. The patient reported no other family members had an illness resembling hers.

On physical examination showed, the patient appeared healthy. Movements in the left upper extremity were abnormal, and the fractured ends of the left humerus were palpable. Muscular weakness was present; however, grip and pinch ability were not disturbed.

The skin in the involved extremity was clear without hemangiomas or edema, and there was no sign of infection. The peripheral pulses of all extremities were normal. There was no neurological deficit. Laboratory studies including hormonologic tests yielded normal values (ie, no evidence of metabolic, immunologic, neoplastic, or infectious etiology).

Radiographs of the left humerus showed a destructive lesion. The lower third of the left humerus had disappeared (Figure 1). Radiographic study of the remainder of the skeleton revealed no abnormality. Dual-energy x-ray absorptiometry of the spine, right hip, and total body revealed osteopenia.

A bone biopsy was obtained from the free margin of the affected humerus using a 4-mm trocar. The specimen was fixed in 10% phosphate-buffered formalin, embedded in methylmethacrylate, and stained with Goldner, hematoxylin-eosin, and toluidine blue.

The patient declined further investigation and a proposed humerus reconstruction with a custom-made prosthesis.

Case 2

A 72-year-old woman presented with left lower extremity disability of 6 months’ duration with no known trauma history. She had been treated elsewhere for low back pain, sciatica, and osteoarthritis of her left knee; however, the pain did not resolve with conservative treatment, rest, and nonsteroidal anti-inflammatory medications. The patient’s condition progressed until she was unable to walk, and she was referred to our orthopedic department.

The patient’s history was noncontributory, and no family members had an illness resembling hers. Three years previously, the patient underwent a right total hip replacement for osteoarthritis.

Physical examination revealed muscular weakness in the lower extremities with no neurological deficit. Movement in the affected left hip was painful. Peripheral pulses were normal. The skin in the involved lower extremity was clear without hemangiomas or edema, and there were no signs of infection. Laboratory studies including hormonologic tests revealed no evidence of a metabolic, immunologic, neoplastic, or infectious etiology.

Radiographs of the left femur demonstrated the femoral head had disappeared (Figure 2). Radiographic study of the remainder of the skeleton demonstrated no evidence of other abnormalities. Dual-energy x-ray absorptiometry of the spine revealed osteoporosis.

The patient underwent a left total hip replacement. Intraoperative findings showed complete replacement of the femoral head space by fibrous tissue.

The resected content of the acetabulum of the left hip joint was sent for biopsy. The specimen was fixed in 10% phosphate-buffered formalin, embedded in methylmethacrylate and stained with Goldner, hematoxylin-eosin, and toluidine blue.

Histopathologic findings in both cases revealed thickened bone of lamellar structure without marrow cavities next to fibrous tissue, with few fibroblasts and a small number of newly formed vascular channels (there was bone-fibrous tissue replacement) (Figures 3 and 4). Osteoblastic activity was absent. There were few osteoclasts of apoptotic type. No callus formation, re-osteolysis of formed callus, calcification, or new bone formation were found. There was no evidence of cellular atypia or malignancy.

Discussion

Vanishing bone disease is a rare idiopathic disease leading to extensive loss of bony matrix, which is replaced by proliferating thin-walled vascular channels and fibrous tissue.8 Although the disease can be monostotic or polyostotic, multicentric involvement is unusual.9 The process often extends to the soft tissues and adjacent bones, especially at the shoulder girdle. There are no associated endocrine or metabolic abnormalities.10

Genetic transmission or sex predilection is not evident. A pregnancy with Gorham disease was described in 1993.11 The infant was delivered by low forceps, with a good outcome. Two other natural pregnancies also were reported in 1990.12

Pathogenesis and Pathophysiology

The mechanism of bone destruction and resorption remains unclear.7 The etiology is unknown. Incidence of the disease may be linked to a history of minor trauma, although as many as half of the patients have no history of trauma.9

Most cases occur in children or in adults <40 years. However, the disease has been described in patients as young as 1 month8 to as old as 75 years.13 The bones of the upper extremity and the maxillofacial region are the predominant osseous locations of the disease. Approximately 60% of all cases with vanishing bone disease occur in men.1

Leriche’s hypothesis that post-traumatic arterial hyperemia was responsible for bone resorption was rejected first by Mouchet and later by Gorham et al.3 The same authors postulated an angioma might act as a shunt, increasing local oxygen tension.3

In most cases, trauma was relatively trivial, and in some cases, trauma did not occur. As with many other diseases, the role of trauma in vanishing bone disease may be to signal the presence of a preexisting abnormality. Knoch15 suggested a previous silent hamartoma becomes active after a minor trauma, leading to bone resorption.

Neurovascular changes such as Sudeck atrophy also have been described.16 Thompson and Schurman17 suggested the disease is a primary aberration of vascular tissue in bone, related to hyperemic granulation tissue. According to Young et al,18 endothelial dysplasia of blood and lymphatic vessels could lead to osteolysis. Osteoclasts are the only cells capable of resorbing bone. Thus, it is presumed vanishing bone disease may represent a pathologic derangement of osteoclastic activity. Any defect of the osteoclasts could lead to idiopathic osteolysis.19

Complications depend on the affected bones (neurological or pulmonary). Chylothorax and hemothorax20,21 also may be associated with vanishing bone disease. There have been 25 reported cases of chylothorax as a complication of vanishing bone disease; 10 of these cases were bilateral.22 Chylothorax can be resulted from invasion of the thoracic duct by the lymphangioma or penetration of vascular dysplasia into the pleural cavity.22-24

Diagnosis

The diagnosis of vanishing bone disease is based on clinical examination, radiologic imaging studies, and histopathologic examination of the affected area. Vanishing bone disease is not accompanied by general symptoms. Dull aching, weakness in the affected extremity, swelling, and skeletal deformities are prominent symptoms.19 The usual presenting symptom of vanishing bone disease is localized pain as happened in our second case, usually secondary to a fracture; however, deformity may be the only complaint, as happened in our first case.

Laboratory findings are not specific and of no value in the diagnostic procedure, as occurred in our cases. An elevated alkaline phosphatase level has been reported in a patient with an associated fracture.10 Devlin et al25 also suggested increased levels of interleukin-6 might act as a potential mediator of increased osteoclast activity in patients with vanishing bone disease.

Computed tomography is used to delineate soft-tissue involvement and the extent of bone osteolysis,26 and also to facilitate biopsy of the affected bone. Conventional angiography cannot reveal the pathologic vascular changes,13 and scintigraphy is not reliable because of variable accumulation of isotopes at the lesion site.27 Magnetic resonance imaging shows isointensity to muscle on T1-weighted images and increased intensity on T2-weighted images26,28 but is not helpful.8

Radiographs are the best tools for detecting vanishing bone disease.29 The radiographic appearance becomes diagnostic of vanishing bone disease when unilateral partial or total disappearance of contiguous bones, tapering of bony remnants, and absence of a sclerosing or osteoblastic reaction are present. Pertinent negative radiographic findings are absence of phleboliths, vascular or soft-tissue calcification, coarse trabeculation, and any related bony abnormality with the exception of demineralization resulting from disuse.8 In our first case, the unilateral total disappearance of the lower third of the humerus and tapering of the bony remnants was evident radiographically (Figure 1).

Histologically, the appearance depends on the phase in which the disease is diagnosed. In 1983, Heffez et al30 described 2 phases. The first phase represents increased vascular concentration in the bone-displacing fibrous tissue part; in the second phase, only fibrous tissue is found. The presence and number of osteoclasts vary significantly in vanishing bone disease. In most cases osteoclastic activity is minimal or nonexistent, whereas in other cases, osteoclasts are easily identifiable.31 If present, osteoclastic activity is concentrated in the interface between the vascular channels and the cortex.1 Table 2 shows the histopathologic and clinical criteria cited by Heffez et al30 for diagnosis of massive osteolysis.

Management

 

The treatment of vanishing bone disease is controversial. Therapeutic treatment with estrogens, magnesium, calcium, vitamin D and vitamin B12, fluoride, and calcitonin as well as cisplatin, actinomycin D, aluminium acetate solution, ultraviolet radiation, somatotrophin, amino acids, or even placental extracts or transfusions of placental blood have proved unsuccessful.19,32-35

Surgical intervention has been suggested as a method of choice by many authors.21,22,36,38-44 Surgical treatment involves local resection of the affected bone, with or without replacement prostheses or bone grafts.6,19,31,34,39,40,44,45

Bone grafting techniques have yielded poor results, and Cannon46 observed a high incidence of bone graft resorption. However, Nemec et al47 reported successful treatment of complete destruction of the acetabulum with bone grafts.

Sympathectomy also has been advocated but with no effect on the disease. Antiresoptive agents including diphosphonates can be useful.19

Results obtained with radiation therapy have been equivocal, although in a few cases, apparent arrest has been produced.48-50 Radiation therapy, especially when used early in the course of the disease, appears to be the only accepted form of treatment with a greater chance of success.21,36,41,51-62 However, it is difficult to assess the potential of radiation therapy accurately as its use in the treatment of vanishing bone disease has been documented as case reports.

Radiotherapy acts by accelerating sclerosis of the proliferating blood vessels and prevents regrowth of these vessels.59 Although the use of total doses from 30 to 45 Gy have been reported to be effective,37,48,55,57,58 Fontanesi60 showed excellent results using a total dose of 15 Gy in a case that involved the upper extremity. Hanly et al53 reported rapid relief of symptoms and prevention of further osseous destruction during a 6-year follow-up period with a total dose of 3000 rads. Regrowth of bone after radiation therapy is unusual61 but has been reported in some cases.36,52,62

Chemotherapy also has been reported to be successful in some patients.63 Anavi et al41 suggested treatment should include surgery, radiotherapy, and various medications, either alone or combined.

Immobilization of the involved extremity does not affect the prognosis.36 In cases with spinal involvement, instability must be watched for and managed early. Spinal localizations are best treated by segmental fixation extended to normal vertebrae.64

In cases complicated with chylothorax, the mortality rate is >50%. 22,28 Pleurodesis,65-67 radiation therapy,51 and interferon alfa-2b68 have been used effectively for the treatment of chylothorax.

The prognosis varies from slight disability to death by involvement of vital skeletal structures. It has been reported that >15% of patients die as a result of their disease.69 Severe disability results from involvement of the pelvis, thorax, and cervical spine.35,37,38 Neurological complications increase the mortality to 33.3%.22 However, the disease usually remains localized within a skeletal region and undergoes eventual spontaneous arrest.1

Differential Diagnosis

The differential diagnosis should exclude other causes of osteolysis such as skeletal angiomas, essential osteolysis, hereditary osteolysis, infection, trauma (Sudeck atrophy), endocrine disease, rheumatoid arthritis, various nervous system diseases, and tumors.59 Skeletal angiomas have less growth potential and tend to preserve bony cortex without spreading into adjacent bone. Essential osteolysis causes resorption of carpal and tarsal bones with progressive renal failure but without vascular proliferation. Hereditary osteolysis (carpotarsal osteolysis) starts in childhood, tends to be multicentric, and involves primarily the hands and foot; vascular proliferation is absent.135 All of the other disorders present with histologic and clinical features that are distinct from massive osteolysis.

Gorham disease is a combined clinical, radiographic, and histologic entity. It is characterized by a nonfamilial, histologically benign vascular proliferation originating in bone and producing complete lysis of all or a portion of the bone.69 Although our second case appeared to support surgical treatment with a total hip replacement, after only 2 years of follow-up, it would be premature to recommend this as a universal treatment regimen.

Vanishing bone disease is a rare disease of unknown etiology. It is characterized by spontaneous and progressive destruction and disappearance of the bone, and is associated with a vascular abnormality, angiomatosis, or hemangiomatosis. The maxillofacial region and upper extremity bones are the predominant sites of involvement, and no treatment options have been proven beneficial.

References

  1. Huvos AG. Bone Tumors, Diagnosis, Treatment and Prognosis. 2nd ed. Philadelphia, PA: WB Saunders; 1991.
  2. 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(5):985-1004.
  3. Gorham LW, Wright AW, Schultz HH, Maxon FC. Disappearing bones: a rare form of massive osteolysis: report of 2 cases, 1 with autopsy findings. Am J Med. 1954; 17(5):674-682.
  4. Milner SM, Baker SL. Disappearing bones. J Bone Joint Surg Br. 1958; 40(2):502-513.
  5. Branch HE. Acute spontaneous absorption of bone: report of a case involving a clavicle and a scapula. J Bone Joint Surg. 1945; 27(3):706-710.
  6. Turra S, Gigante C, Scapinelli R. A 20-year follow-up study of a case of surgically treated massive osteolysis. Clin Orthop Relat Res. 1990; (250):297-302.
  7. Joseph J, Bartal E. Disappearing bone disease: a case report and review of the literature. J Pediatr Orthop. 1987; 7(5):584-588.
  8. Vinee P, Tanyu MO, Hauenstein KH, Sigmund G, Stover B, Adler CP. CT and MRI of Gorham syndrome. J Comput Assist Tomogr. 1994; 18(6):985-989.
  9. Velez A, Herrera M, Del Rio E, Ruiz-Maldonado R. Gorham’s syndrome. Int J Dermatol. 1993; 32(12):884-887.
  10. Johnson PM, McClure JG. Observations on massive osteolysis: a review of the literature and report of a case. Radiology. 1958; 71(1):28-42.
  11. Porter KB, O’Brien WF, Towsley G, Cates JD, Watts DB. Pregnancy complicated by Gorham disease. Obstet Gynecol. 1993; 81(5 pt 2):808-810.
  12. Kulenkampff HA, Richter GM, Hasse WE, Adler CP. Massive pelvic osteolysis in the Gorham-Stout syndrome. Int Orthop. 1990; 14(4):361-366.
  13. Szabo C, Habre W. Gorham syndrome: anaesthetic management. Anaesthesia. 2000; 55(2):157-159.
  14. Chong Ng L, Sell P. Gorham disease of the cervical spine—a case report and review of the literature. Spine. 2003; 28(18):E355-E358.
  15. Knoch H-G. Die Gorhamsche Krankheit aus klinischer Sicht. Zentralbl Chir. 1963; 18:674-683.
  16. Lichtenstein L. Diseases of Bone and Joints. St Louis, MO: Mosby; 1975.
  17. Thompson JS, Schurman DJ. Massive osteolysis: case report and review of the literature. Clin Orthop Relat Res. 1974; (103):206-211.
  18. Young JW, Galbraith M, Cunningham J, et al. Progressive vertebral collapse in diffuse angiomatosis. Metab Bone Dis Relat Res. 1983; 5(2):53-60.
  19. Moller G, Priemel M, Amling M, Werner M, Kuhlmey AS, Delling G. The Gorham-Stout syndrome (Gorham’s massive osteolysis): a report of six cases with histopathological findings. J Bone Joint Surg Br. 1999; 81(3):501-506.
  20. Gherlinzoni F, Rocco M. Progressive teleangiomatous osteolysis: case report. Ital J Orthop Traumatol. 1983; 9(4):515-519.
  21. Meller JL, Curet-Scott M, Dawson P, Besser AS, Shermeta DW. Massive osteolysis of the chest in children: an unusual cause of respiratory distress. J Pediatr Surg. 1993; 28(12):1539-1542.
  22. Tie MLH, Poland GA, Rosenow EC. Chylothorax in Gorham’s syndrome: a common complication of a rare disease. Chest. 1994; 105(2):208-213.
  23. Feigl D, Seidel L, Marmor A. Gorham’s disease of the clavicle with bilateral pleural effusions. Chest. 1981; 79(2):242-244.
  24. Riantawan P, Tansupasawasdikul S, Subhannachart P. Bilateral chylothorax complicating massive osteolysis. Thorax. 1996; 51(12):1277-1278.
  25. Devlin RD, Bone HG, Roodman GD. Interleukin-6: a potential mediator of the massive osteolysis in patient with Gorham-Stout disease. J Clin Endocrinol Metab. 1996; 81(5):1893-1897.
  26. Assoun J, Richardi G, Railhac JJ, et al. CT and MRI of massive osteolysis of Gorham. J Comput Assist Tomogr. 1994; 18(6):981-984.
  27. Sato K, Sugiura H, Yamamura S, Mieno T, Nagasaka T, Nakashima N. Gorham massive osteolysis. Arch Orthop Trauma Surg. 1997; 116(8):510-513.
  28. Lee S, Finn L, Sze RW, Perkins JA, Sie KC. Gorham Stout syndrome (disappearing bone disease): Two additional case reports and a review of the literature. Arch Otolaryngol Head Neck Surg. 2003; 129(12):1340-1343.
  29. Naden BA. When bone disappears. RN. 1995; 58(10):26-29.
  30. Heffez L, Doku HC, Carter BL, Feeney JE. Perspectives of massive osteolysis: report of a case and review of the literature. Oral Surg Oral Med Oral Pathol. 1983; 55(4):331-343.
  31. Dickson GR, Mollan RAB, Carr KE. Cytochemical localization of alkaline and acid phosphatase in human vanishing bone disease. Histochemistry. 1987; 87(6):569-572.
  32. Mendez AA, Keret D, Robertson W, MacEwan GD. Massive osteolysis of the femur (Gorham’s disease): a case report and review of the literature. J Pediatr Orthop. 1989; 9(5):604-608.
  33. Fisher KL, Pogrel MA. Gorham syndrome (massive osteolysis): a case report. J Oral Maxillofac Surg. 1990; 48(11):1222-1225.
  34. Freedy MN, Bell KA. Massive osteolysis (Gorham’s disease) of the temporomandibular joint. Ann Otol Rhinol Laryngol. 1992; 101(12):1018-1020.
  35. Kareem BA, Das PK, Saad R. Disappearing bone disease: a case report. Singapore Med J. 1994; 35(5):527-528.
  36. Heyden G, Kindblom LG, Nielsen JM. Disappearing bone disease. : a clinical and histological study. J Bone Joint Surg Am. 1977; 59(1):57-61.
  37. 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(3):491-497.
  38. Shives TC, Beabout JW, Unni KK. Massive osteolysis. Clin Orthop Relat Res. 1993; (294):267-276.
  39. Tunon JB, Gonzalez FP. Angiomatosis of the metacarpal skeleton. Hand. 1977; 9(1):88-91.
  40. Horst M, Zsernaviczky J, Delling G. A rare case of so-called idiopathic osteolysis associated with a lymphangioma of the fibula [in German]. Z Orthop. 1979; 117(1):88-95.
  41. Anavi Y, Sabes WR, Mintz S. Gorham’s disease affecting the maxillofacial skeleton. Head Neck. 1989; 11(6):550-557.
  42. Ohya T, Shibata S, Takeda Y. Massive osteolysis of the maxillofacial bones: report of two cases. Oral Surg Oral Med Oral Pathol. 1990; 70(6):698-703.
  43. Rudert M, Gross W, Kirschner P. Gorham-Stout massive osteolysis: a case report [in German]. Unfallchirurg.1995; 98(2):102-104.
  44. Giraudet-Le Quintrec JS, Peyrache MD, Courpied JP, Menkes CJ, Kerboull M. Idiopathic massive osteolysis of the femur: syndrome called Gorham-Stout syndrome [in French]. Presse Med. 1995; 24(15):719-721.
  45. Klein M, Metelmann HR, Gross U. Massive osteolysis (Gorham-Stout syndrome) in the maxillofacial region: an unusual manifestation. Int J Oral Maxillofac Surg. 1996; 25(5):376-378.
  46. Cannon SR. Massive osteolysis: a review of seven cases. J Bone Joint Surg Br. 1986; 68(1):24-28.
  47. Nemec B, Matovinovic D, Gulan G, Kozic S, Schnurrer T. Idiopathic osteolysis of the acetabulum: a case report. J Bone Joint Surg Br. 1996; 78(4):666-667.
  48. Handl-Zeller L, Hohenberg G. Radiotherapy of Morbus Gorham-Stout: the biological value of low irradiation dose. Br J Radiol. 1990; 63(747):206-208.
  49. Heuck F. Diagnosis: massive osteolyse (vanishing bone disease; Gorham disease) of mandible. Skeletal Radiol. 1979; 3:241-243.
  50. Mitchell CS, Parisi MT, Osborn RE. Gorham’s disease involving the thoracic skeleton: plain films and CT in two cases. Pediatr Radiol. 1993; 23(7):543-544.
  51. McNeil KD, Fong KM, Walker QJ, Jessup P, Zimmerman PV. Gorham’s syndrome: a usually fatal cause of pleural effusion treated successfully with radiotherapy. Thorax. 1996; 51(12):1275-1276.
  52. Bek V, Haicl Z, Kolar J, Bednar B. Radiotherapy of the Gorham-Stout syndrome. Cesk Radiol. 1981; 35:291-298.
  53. Hanly JG, Walsh NM, Bresnihan B. Massive osteolysis in the hand and response to radiotherapy. J Rheumatol. 1985; 12(3):580-582.
  54. Listewnik MJ, Marzecki Z, Kordowski J. Disappearing bone disease: massive osteolysis of the ribs treated with radiotherapy: report of a case. Strahlenther Onkol. 1986; 162(5):338-341.
  55. Mathias K, Hoffman J, Martin K. Gorham-Stout sundrome der mandibula. Radiologe. 1986; 26:439-441.
  56. Carneiro RS, Steglich V. “Disappearing bone disease” in the hand. J Hand Surg Am. 1987; 12(4):629-634.
  57. Stove J, Reichelt A. Massive osteolysis of the pelvis, femur and sacral bone with a Gorham-Stout syndrome. Arch Orthop Trauma Surg. 1995; 114(4):207-210.
  58. Meydam K, Hering KG, Jaspers U, Machtens E. Gorham-Stout syndrome—progressive osteolysis with viscerocranial involvement [in German]. Strahlentherapie.1985; 161(10):625-627.
  59. Holroyd I, Dillon M, Roberts GJ. Gorham’s disease: a case (including dental presentation) of vanishing bone disease. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000; 89(1):125-129.
  60. Fontanesi J. Radiation therapy in the treatment of Gorham disease. J Pediatr Hematol Oncol. 2003; 25(10):816-817.
  61. Leu HJ, Brunner U. Posttraumatic osteolysing haemangiomatosis (disappearing bone or Gorham syndrome [in German]. Dtsch Med Wochenschr. 1981; 106(43):1424-1428.
  62. Campbell J, Almond HG, Johnson R. Massive osteolysis of the humerus with spontaneous recovery: report of a case. J Bone Joint Surg Br. 1975; 57(2):238-240.
  63. Schnall SB, Vowels J, Schwinn CP, Wong D. Disappearing bone disease of the upper extremity. Orthop Rev. 1993; 22(5):617-620.
  64. Grelet V, Chataigner H, Onimus M. Spinal localization of Gorham’s disease: case report [in French]. Rev Chir Orthop Reparatrice Appar Mot. 1999; 85(1):81-87.
  65. Patrick JH. Massive osteolysis complicated by chylothorax successfully treated by pleurodesis. J Bone Joint Surg Br. 1976; 58(3):347-349.
  66. Pedicelli G, Mattia P, Zorzoli AA, Sorrone A, De Martino F, Sciotto V. Gorham syndrome. JAMA. 1984; 252(11):1449-1451.
  67. Hejgaard N, Olsen PR. Massive Gorham osteolysis of the right hemipelvis complicated by chylothorax: report of a case in a 9-year-old boy successfully treated by pleurodesis. J Pediatr Orthop. 1987; 7(1):96-99.
  68. Hagberg H, Lamberg K, Astrom G. Alpha-2b interferon and oral clodronate for Gorham’s disease. Lancet. 1997; 350(9094):1822-1823.
  69. 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(6):1151-1156.
  70. Chai WX, Wu JP, Chen KF. Massive osteolysis of the skull: long term follow-up observations after cranioplasty: report of two cases. Acta Neurochir (Wien). 1984; 73(3-4):201-206.
  71. Frankel DG, Lewin JS, Cohen B. Massive osteolysis of the skull base. 1997; 27(3):265-267.
  72. Hasegawa H, Bitoh S, Tamura K, Obashi J. Idiopathic massive osteolysis of skull bone: a case report [in Japanese]. No Shinkei Geka. 1989; 17(5):481-484.
  73. Iyer GV. Cerebrospinal fluid rhinorrhoea from massive osteolysis of the skull. J Neurol Neurosurg Psychiatry. 1979; 42(8):767-769.
  74. Rao SV, Reddy DR, Reddy GM, Reddy PK, Mohan UL, Reddy M. Idiopathic massive osteolysis of skull bones: a case report. Neurosurgery. 1987; 21(4):564-566.
  75. Reddy DR, Sathyanarayana K, Reddy VV, Rao DM, Rajyalakshmi K. Massive osteolysis of skull bones. J Indian Med Assoc. 1979; 72(7):165-166.
  76. Wildforster U. Gorham syndrome: presentation of a case [in German]. Neurochirurgia. 1986; 29(5):198-200.
  77. Bucher RP. Study of an unusual case of essential osteolysis. Behavior of dental tissues and of adjoining mandibular parts [in French]. SSO Schweiz Monatsschr Zahnheilkd. 1969; 79(4):501-524.
  78. Cadenat H, Bonnefont J, Barthelemy R, Fabie M, Combelles R. The phantom mandible [in French]. Rev Stomatol Chir Maxillofac. 1976; 77(7):877-889.
  79. Cadenat H, Combelles R, Fabert G, Clouet M. Cryptogenetic osteolysis of the mandible [in French]. J Radiol Electrol Med Nucl. 1978; 53(8-9):509-512.
  80. Diaz-Ramon C, Fernandez-Latorre F, Revert-Ventura A, Mas-Estelles F, Domenech-Iglesias A, Lazaro-Ventura A. Idiopathic progressive osteolysis of craniofacial bones. Skeletal Radiol. 1996; 25(3):294-297.
  81. El Mofty S. Atrophy of the mandible (massive osteolysis). Oral Surg Oral Med Oral Pathol. 1971; 31(5):690-700.
  82. Frederiksen NL, Wesley RK, Sciubba JJ, Helfrick J. Massive osteolysis of the maxillofacial skeleton: a clinical, radiographic, histologic, and ultrastructural study. Oral Surg Oral Med Oral Pathol. 1983; 55(5):470-480.
  83. Gratz KW, Prein J, Remagen W. A reconstruction attempt in progressive osteolysis (Gorham disease) of the mandible: a case report [in German]. Schweiz Monatsschr Zahnmed. 1987; 97(8):980-984.
  84. Hirayama T, Sabokbar A, Itonaga I, Athanasou NA. Cellular and humoral mechanisms of osteoblast formation in Gorham-Stout disease. J Bone Joint Surg Br. 2000; 82:259S-260S.
  85. Jaspers U, Knolle G, Machtens E, et al. Verlaufskontrollen bein Gorham-Stout-Syndrom. Fortschr Kiefer Gesichtschir. 1986; 31:144-149.
  86. Knolle von G, Meyer D. Massive Osteolyse im Bereich des Unterkiefers infolge Hamangiomatosis des Knochens. Dtsch Zahn-Mund-Kieferheilkunde. 1965; 45:433-463.
  87. Leilich G. Complete unilateral osteolysis in the mandibular area: a case study [in German]. Dtsch Z Mund Kiefer Gesichtschir. 1984; 8(5):360-362.
  88. Moore MH, Lam LK, Ho CM. Massive craniofacial osteolysis. J Craniofac Surg. 1995; 6(4):332-336.
  89. Schiel H, Prein J. Seven-year follow-up of vanishing bone disease in a 14-year-old girl. Head Neck. 1993; 15(4):352-356.
  90. Staren’kova GV. Spontaneous osteolysis of the mandible [in Russian]. Stomatologiia. 1978; 57(4):39-42.
  91. Schwenzer N. Rekonstruktion nach Gorhamscher Osteolyse Bereich des Mittelgesichtes. Dtsch Z Mund-Kiefer-Gesichtschir. 1983; 7:190-195.
  92. Takeda Y, Kuroda M, Suzuki A, Fujioka Y, Takayama K. Massive osteolysis of the mandible. Acta Pathol Jpn. 1987; 37(4):677-684.
  93. Phillips RM, Bush OB Jr, Hall HD. Massive osteolysis (phantom bone, disappearing bone): report of a case with mandibular involvement. Oral Surg Oral Med Oral Pathol. 1972; 34(6):886-896.
  94. Aoki M, Kato F, Saito H, Mimatsu K, Iwata H. Successful treatment of chylothorax by bleomycin for Gorham’s disease. Clin Orthop Relat Res. 1996; (330):193-197
  95. Drewry GR, Sutterlin CE III, Martinez CR, Brantley SG. Gorham disease of the spine. Spine. 1994; 19(19):2213-2222.
  96. Edwards WH Jr, Thompson RC Jr, Varsa EW. Lymphangiomatosis and massive osteolysis of the cervical spine—a case report and review of the literature. Clin Orthop Relat Res. 1983; (177):222-229.
  97. Foult H, Goupille P, Aesch B, Valat JP, Burdin P, Jan M. Massive osteolysis of the cervical spine: case report. Spine. 1995; 20(14):1636-1639.
  98. Hambach R, Pujman J, Maly V. Massive osteolysis due to hemangiomatosis. Report of a case of Gorham’s disease with autopsy. Radiology. 1958; 71(1):43-47.
  99. Mabille L, Berenger N, Laredo JD, Kuntz D, Mundler O. Vanishing vertebra. Clin Nucl Med. 1997; 22(1):49-51.
  100. Mawk JR, Obukhov SK, Nichols WD, Wynne TD, Odell JM, Urman SM. Successful conservative management of Gorham disease of the skull base and cervical spine. Childs Nerv Syst. 1997; 13(11-12):622-625.
  101. Woodward HR, Chan DPK, Lee J. Massive osteolysis of the cervical spine: a case report of bone failure. Spine. 1981; 6(6):545-549.
  102. Castleman B, Macneely B. Case records of the Massachusetts General Hospital. N Engl J Med. 1964; 270:731-736.
  103. Frame B, Herrera LF, Mitchell DC, Fine G. Massive osteolysis and calcinosis. Am J Med. 1971; 50(3):408-412.
  104. Florchinger A, Bottger E, Claass-Bottger F, Georgi M, Harms J. Gorham Stout syndrome of the spine: case report and review of the literature [in German]. Rofo. 1998; 168(2):68-76.
  105. Leonard JC, Morin C. Radiological case of the month: Gorham disease of costovertebral localization [in French]. Arch Pediatr. 1997; 4(9):893-895.
  106. Dan’ura T, Ozaki T, Sugihara S, Taguchi K, Inoue H. Massive osteolysis in the pelvis—a case report. Acta Orthop Scand. 1998; 69(2):197-198.
  107. Picault C, Comtet JJ, Imbert JC, Boyer JM. Surgical repair of extensive idiopathic osteolysis of the pelvic girdle (Jackson-Gorham disease). J Bone Joint Surg Br. 1984; 66:148-149.
  108. Aviv RI, McHugh K, Hunt J. Angiomatosis of bone and soft tissue: a spectrum of disease from diffuse lymphangiomatosis to vanishing bone disease in young patients. Clin Radiol. 2001; 56(3):184-190.
  109. Dutheil-Doco A, Ducou le Pointe H, Larroquet M, Josset P, Tournier G, Montagne JP. Gorham disease with prominent pleuropulmonary manifestation [in French]. J Radiol. 1997; 78(9):665-667.
  110. Ng SE, Wang YT. Gorham’s syndrome with pleural effusion and colonic carcinoma. Singapore Med J. 1995; 36(1):102-104.
  111. Padua y Gabriel A, Peraza-Martinez L, Peralta-Sanchez J, Jaramillo Y, Arista-Nasr J. Gorham’s disease: report of 2 cases associated with bilateral pleural effusion [in Spanish]. J Rev Invest Clin. 1994; 46(42):301-305.
  112. Rousselin L, Roche G, Carette MF. Pleural effusions (chylous or nonchylous) with regional osteolysis: a case evocative of Gorham’s disease [in French]. Poumon Coeur. 1977; 33(3):203-207.
  113. Sans N, Giron J, Laroche M, et al. Gorham disease of the rib with osteolysis followed by bone remodeling: study with magnetic resonance imaging [in French]. Rev Mal Respir. 1999; 16(1):98-101.
  114. Slawski DP, Cahill BR. Atraumatic osteolysis of the distal clavicle: results of open surgical excision. Am J Sports Med. 1994; 22(2):267-271.
  115. Chagnaud C, Gaubert JY, Champsaur P, Marciano S, Petit P, Moulin G. Vanishing osteosclerotic lesion of the humeral head. Skeletal Radiol. 1998; 27(1):50-52.
  116. Damron TA, Brodke DS, Heiner JP, Swan JS, DeSouky S. Case report 803: Gorham’s disease (Gorham-Stout-syndrome) of scapula? Skeletal Radiol. 1993; 22(2):464-467.
  117. Falcone G, Gusso MI, Pennisi M. A rare case of massive osteolysis (Gorham’s syndrome [in Italian]. Arch Putti Chir Organi Mov. 1989; 37(2):447-454.
  118. Glass-Royal M, Stull MA. Musculoskeletal case of the day: Gorham syndrome of the right clavicle and scapula. AJR Am J Roentgenol. 1990; 154(6):1335-1336.
  119. Lameiras FM. Acro-osteolysis [in German]. Handchir Mikrochir Plast Chir. 1983; 15(2):83-85.
  120. Poirier H. Massive osteolysis of the humerus treated by resection and prosthetic replacement. J Bone Joint Surg Br. 1968; 50(1):158-160.
  121. Pouliart N, Casteleyn PP. Vanishing distal clavicle after arthroscopic acromioplasty. Arthroscopy. 2000; 16(8):855-857.
  122. Rauh G, Gross M. Disappearing bone disease (Gorham-Stout disease): report of a case with a follow-up of 48 years. Eur J Med Res. 1997; 2(10):425-427.
  123. Segmuller G. Spontaneous osteolysis of the carpus (Gorham syndrome?) [in German]. Handchirurgie. 1980; 12(1-2):93-96.
  124. Tandler P, Trager D, Adler CP. Spontaneous idiopathic osteolysis (Gorham syndrome): a case report [in German]. Z Orthop Ihre Grenzgeb. 1984; 122(5):635-638.
  125. Vrettos BC, Wallace WA, Neumann L, Frostick S. Total scapular replacement: medium-term follow-up. J Shoulder Elbow Surg. 2004; 13(6):472-475.
  126. Spieth ME, Greenspan A, Forrester DM, Ansari AN, Kimura RL, Gleason-Jordan I. Gorham’s disease of the radius: radiographic, scintigraphic, and MRI findings with pathologic correlation: a case report and review of the literature. Skeletal Radiol. 1997; 26(11):659-663.
  127. Bruch-Gerharz D, Gerharz CD, Stege H, et al. Cutaneous vascular malformations in disappearing bone (Gorham-Stout) disease. JAMA. 2003; 289(12):1479-1480.
  128. Friedman L, Horwitz T, Beck M, Sinn R. Case report 672: Gorham’s disease. Skeletal Radiol. 1991; 20(4):307-309.
  129. Green HD, Mollica AJ, Karuza AS. Gorham’s disease: a literature review and case reports [published correction appears in J Foot Ankle Surg. 1995; 34(6):598]. J Foot Ankle Surg. 1995; 34(5):435-441.
  130. Grepl J, Kudrmann J. Osteolysis of the bones of tarsus, metatarsus and articles of fingers during haemangioendothelioma: peripheral form similar to Gorham-Stout syndrome [in Czech]. Cesk Radiol. 1976; 30(2):118-124.
  131. Ikegawa S, Hoshikawa Y, Doi M. Idiopathic acro-osteolysis in an elderly woman: a 10-year follow-up. Arch Orthop Trauma Surg. 1992; 111(3):181-182.
  132. Pazzaglia UE, Andrini L, Bonato M, Leutner M. Pathology of disappearing bone disease: a case report with immunohistochemical study. Int Orthop. 1997; 21(5):303-307.
  133. Duncan H, Frame B, Frost HM, Arnstein AR. Migratory osteolysis of the lower extremities. Ann Intern Med. 1967; 66(6):1165-1173.
  134. Krohel GB, Freedman K, Peters GB, Popp AJ. Gorham disease of the orbit. Am J Ophthalmol. 2002; 133(5):729-730.
  135. Hardegger F, Simpson LA, Segmueller G. The syndrome of idiopathic osteolysis: classification, review, and case report. J Bone Joint Surg Br. 1985; 67(1):89-93.

Authors

Drs Papadakis (Stamatios), Babourda, Papadakis (Stefanos), and Mitsitsikas are from the Department of Orthopedics, General Hospital of Didimoticho; Dr Khaldi is from the Department of Histomorphometry, Laboratory for the Research of the Muscoloskeletal System, Athens University; and Dr Sapkas is from the Department of Orthopedics, Medical School, Athens University, Athens, Greece.

Drs Papadakis (Stamatios), Khaldi, Babourda, Papadakis (Stefanos), Mitsitsikas, and Sapkas have no relevant financial relationships to declare.

Correspondence should be addressed to: Stamatios Papadakis, MD, PhD, 28th Octovriou St, 54 N Pendeli, 15236, Athens, Greece.

Posted in Shoulder/Elbow