Gorham–Stout disease (phantom bone) of the shoulder girdle

L. C. Hofbauer, R. A. Klassen and S. Khosla

Endocrine Research Unit, Division of Endocrinology and Metabolism, Department of Medicine, Department of Orthopedics, Mayo Clinic, Rochester, MN 55905, USA

Correspondence to: L. C. Hofbauer, Division of Gastroenterology and Endocrinology, Zentrum für Innere Medizin, Baldingerstrasse, D-35033, Marburg, Germany.

SIR, Gorham–Stout disease is a rare disease of unknown aetiology, characterized by massive osteolysis and excessive intra-osseous proliferation of small blood or lymphatic vessels, resulting in resorption and destruction of bone [1]. We report on an 8-yr-old boy who presented with weakness of his right arm whose right shoulder girdle had disappeared as a result of massive osteolysis due to Gorham–Stout disease.

An 8-yr-old, previously healthy boy presented with a 15-month history of weakness in his right, dominant arm. His parents had noticed that he was holding his right arm close to his body while running, and that he was unable to raise his right arm above his head. In addition, he had become more left-hand dominant over the previous year. On physical examination, his right shoulder appeared substantially lower than the left, with marked muscle atrophy. On palpation, the scapula and the clavicle were absent. Limited range of motion was noted on abduction, adduction, flexion, extension, and external and internal rotation of the shoulder. There was no pain, tenderness or erythema. His physical examination was otherwise normal, as were his laboratory tests (serum calcium 9.4 mg/dl, serum phosphorus 5.1 mg/dl, alkaline phosphatase 57 U/ml). A chest X-ray (Fig. 1A and BGo) demonstrated extensive destruction of the right clavicle and scapula, and decreased radiodensity of the right proximal humerus. On MRI, the extent of bone destruction was confirmed, and the remaining scapula appeared to be replaced by well-vascularized soft tissue (not shown). The patient's history, clinical findings and radiographs were consistent with massive osteolysis due to Gorham–Stout disease involving the right shoulder girdle, with disuse osteoporosis of the humerus. Local radiotherapy was considered at that time, but was not given because of the patient's age. On close clinical and radiological follow-up, progression of osteolysis was noted over the next 4 months with near-total scapular destruction, sparing only the region of the glenoid process. No involvement of the proximal humerus or any other bony structures was noted. A bone biopsy was not performed because of concern about reactivating osteolysis. Follow-up examinations after 6 and 12 months revealed stable disease and no further bone or soft-tissue involvement.



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FIG. 1.  Near-total destruction of the right clavicle and scapula with disuse osteoporosis of the proximal humerus. (A) Chest X-ray; (B) magnified view of the right shoulder.

 
Gorham–Stout disease (vanishing or disappearing bone disease, phantom bone) is a rare disease of unknown aetiology that is characterized by massive osteolysis and excessive intra-osseous proliferation of small blood or lymphatic vessels, resulting in progressive resorption of bone [1]. The disease is most often seen in children and young adults of either gender, and mainly affects bones that develop by intramembranous ossification (shoulder girdle, pelvis, jaw, ribs, spine). Agents that inhibit bone resorption (bisphosphonates, calcitonin) and radiotherapy have been empirically used for treatment. Although the primary mechanism of the disease is unknown, a recent study implicated IL-6 as a potential humoral mediator [2]. Serum from a patient with Gorham–Stout disease (which contained 7-fold elevated IL-6 concentrations) increased osteoclastogenesis and osteoclastic bone resorption in vitro, and this was prevented by pre-treatment with neutralizing antibody to IL-6 [2]. Proliferating vascular smooth muscle cells within the intra-osseous lymphohaemangiomatous lesions may provide a rich source for IL-6 in the bone microenvironment that ultimately leads to abnormal osteoclastic bone resorption [2, 3]. Thus, the beneficial effects of interferon-{alpha}2b [4] and the known beneficial effects of fractionated radiotherapy in patients with Gorham–Stout disease [5], both of which are known to inhibit angiogenesis, may be mediated, at least in part, by inhibition of angiogenesis. Future therapeutic strategies aimed at modifying this cytokine-mediated disease by depleting the source for bone-resorptive cytokines may greatly benefit patients with this debilitating disease.

References

  1.  Gorham L, Stout A. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis. J Bone Joint Surg 1955;37A:985–1004.[ISI]
  2.  Devlin RD, Bone HG, Roodman GD. Interleukin-6: a potential mediator of the massive osteolysis in patients with Gorham-Stout disease. J Clin Endocrinol Metab 1996;81:1893–7.[Abstract]
  3.  Loppnow H, Libby P. Proliferating or interleukin-1-activated human vascular smooth muscle cells secrete copious interleukin-6. J Clin Invest 1990;85:731–8.[ISI][Medline]
  4.  Hagberg H, Lamberg K, Åström G. {alpha}-2b interferon and oral clodronate for Gorham's disease. Lancet 1997;350:1822–3.[ISI][Medline]
  5.  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;83:1151–6.[ISI][Medline]
Accepted 15 March 1999





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