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CASE REPORT
Year : 2013  |  Volume : 16  |  Issue : 4  |  Page : 160-164

Gorham's vanishing bone disease of ribs mimicking metastasis: A case report and review of the literature


1 Department of Orthopaedics, Government Medical College, Jammu, Jammu and Kashmir, India
2 Department of General Surgery, SKIMS Medical College, Bemina, Jammu and Kashmir, India

Date of Web Publication21-Jan-2014

Correspondence Address:
Nadeem Ali
Mughal Mohalla, Lalbazar, Srinagar - 190 023, Jammu and Kashmir
India
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DOI: 10.4103/1118-8561.125563

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  Abstract 

Gorham's disease is a very rare self-limiting osteolytic disorder of the bone of unknown etiology, and can affect any bone of the body. Clinical presentation varies with the location and extent of the lesion. Lesions of the thoracic cage, spine and craniofacial bones are associated with high morbidity. Mortality multitude of treatment options is available, but none is satisfactory. We present a case of Gorham's disease of the ribs that was initially suspected to be metastasis, but subsequent search for the primary lesion was negative. It was the histopathology of the lesion that leads to the diagnosis of Gorham's disease. The lesion did not progress, neither did it resolve either due to the natural arrest or due to effect of the bisphosphonate therapy.

Keywords: Bisphosphonates, Gorham′s disease, misdiagnosis, ribs


How to cite this article:
Ali N, Matoo AR, Bhat A, Muzzafar K. Gorham's vanishing bone disease of ribs mimicking metastasis: A case report and review of the literature. Sahel Med J 2013;16:160-4

How to cite this URL:
Ali N, Matoo AR, Bhat A, Muzzafar K. Gorham's vanishing bone disease of ribs mimicking metastasis: A case report and review of the literature. Sahel Med J [serial online] 2013 [cited 2019 May 24];16:160-4. Available from: http://www.smjonline.org/text.asp?2013/16/4/160/125563


  Introduction Top


Osteolysis can be a feature of countless disease and syndromes and it can be secondary to infections, tumors, neuropathic in the form of Charcot joint disease or osteoacrolysis, metabolic syndromes, inflammatory disease, endocrinopathies such as hyperparathyroidism and trauma in the form of Sudeck's atrophy. [1],[2],[3],[4] Gorham's osteolysis is grouped under rare variety of idiopathic osteolysis of which there is no obvious cause and this heterogeneous group of idiopathic osteolysis has been classified by Hardegger et al. into 5 types [Table 1]. [5],[6]
Table 1: Classification of idiopathic osteolysis[5]

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Jackson described the first case with massive osteolysis of humerus in 1938, but it was not until 1955 when Gorham and Stout presented a review paper of 24 cases and depicted intraosseous non-malignant hemangiomatous or lymphangiomatous tissue proliferation as a pathological cause of massive osteolysis. Innumerable terminology has been used to describe the entity: Gorham's disease, Gorham Stout syndrome, Morbus Gorham Stout disease, vanishing bone disease, disappearing bone disease, phantom bone disease, Gorham's massive osteolysis, hemangiomatosis of bone, lymphangiomatosis of bone. [1],[4],[7],[8],[9] About 60 years have elapsed since Gorham and Stout described the basic pathology leading to bone destruction in this rare, non-malignant, non-hereditary, mono-centric form of osteolysis. However, the basic etiology of the disease is still a mystery. [1],[4],[8] We present a case of Gorham's vanishing bone disease involving ribs in a 42-year-old male mimicking tumor metastasis.


  Case Report Top


This paper reports a case of a 42-year-old male patient admitted to our Orthopedic Out-patient Department with 5 months history of pain on the left side of the chest. Five months earlier, he had sudden onset of severe "cutting" type of pain, aggravated by coughing and deep breathing along left lateral aspect of the chest. The severity of pain subsided, but occasional episodes of dull ache in the region of mid dorsal spine and back of the left side of the chest persisted. There was no history of trauma, fever, cough, breathlessness, weight loss and loss of appetite. He had no family history of similar illness.

On examination, there was slight asymmetry of the chest due to a shallow depression on left lateral side of the chest, more obvious on posterior inspection and on inspiration. Tenderness was elicited on deep palpation and rib could not be palpated along the depression. Findings on examination of the pulmonary, cardiovascular, abdominal, spine and neurological systems were unremarkable.

The spine radiographs was normal while chest radiograph showed absence of the lateral aspect of the left fifth rib and fragmentation with moth eaten appearance of the posterior and lateral part of the sixth rib [Figure 1]. No osteoblastic activity or periosteal reaction was seen. A provisional diagnosis of metastasis to the ribs was made. A possibility of an aggressive primary bone tumor was also entertained as a differential. All the base line investigations, peripheral blood smear, erythrocyte sedimentation rate, urine for Bence Jones proteins, serum electrophoresis, serum calcium and phosphate, alkaline phosphate, serum parathormone levels, thyroid profile and abdominal ultrasound were normal. Computed tomogram (CT) scan of the abdomen, pelvis and chest did not reveal any primary source of the lesion. CT of the chest showed complete osteolysis of the lateral aspect of left fifth rib with fragmentation of the adjacent part. The posterior and lateral part of left sixth rib also appeared fragmented [Figure 2]. There was no soft-tissue mass or pleural effusion or involvement of the lungs. Fine needle aspiration cytology of the involved sixth rib was inconclusive. Open biopsy and histopathology demonstrated degenerating bone trabeculae lined by large osteoclasts with surrounding thin-walled wide lumen capillaries and fibrous tissue. Nuclear atypia was not seen, which ruled out malignant nature of the lesion.
Figure 1: Radiograph of chest showing missing lateral part of left fifth rib (single big arrow) and moth eaten appearance with fragmentation of posterior and lateral part of left sixth rib (multiple small arrows)

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Figure 2: Three dimensional reconstruction computed tomogram scan of chest showing absent lateral portion of left fifth rib (star) with fragmentation of adjacent portion of same rib and of the posterior and lateral part of left sixth rib (white and black arrows)

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Alendronate (oral daily 40 mg) was administered for 6 months. Patient was asymptomatic within 3 months of alendronate therapy and there was no clinical or radiological progression of osteolysis of the involved or adjacent ribs and of the dorsal spine. There was no evidence of development of pleural or pericardial effusion over a period of 18 months before the patient was lost.


  Discussion Top


Gorham's disease is a very rare nonmalignant, non-familial, sporadic osteolytic disorder. Only around 200 cases have been reported. [1],[9],[10],[11] It can occur in any age group but majority involve children and young adults below 40 years of age. [4],[12] There is no sex predilection though some report 60% of male predisposition. [1],[4],[9],[13] It can involve any bone, but those that develop by intra-membranous ossification are more commonly involved. [1] These include maxillofacial, shoulder girdle and pelvic girdle. [9] Unifocal localizations involving the skull (18.3%), the pelvis (17.7%), the shoulder girdle (16.0%), the lower limb (14.9%) and the upper limb (11.4%); less often the spine, ribs and the sternum have been reported. [11] Gorham's osteolysis is monocentric involving single bone, but it can involve the adjacent bones too with joint or intervertebral disc constituting no barrier. [10],[14] In our case, the disease did not progress clinically and radiologically over a follow-up period of 18 months to involve adjacent bones and viscera such as sternum, vertebrae, other ribs, pleura, mediastinum and lungs.

The exact etiology of the condition is still obscure with numerous hypotheses being proposed [3],[4] Gorham and Stout proposed active hyperemia with resultant change in local pH, which promotes bone resorption. [8] In contrast Heyden et al. reported sluggish blood flow in the wide lumen capillaries of the lesion producing local hypoxia and decrease in pH that favors activation of various hydrolytic enzymes that promote osteolysis. [15] Devlin et al. found raised serum level of interleukin-6 (IL-6) and enhanced osteoclastic activity in these patients. [16] Hirayama et al. found that osteoclast precursors in the circulating blood were not increased in Gorham's disease, but appeared to be more sensitized to the effect of humoral osteoclastogenic factors. [17] Thyroid C cells and calcitonin may also have a role. [18] The role of trauma has remained controversial. [9] A history of trauma is present in 57% cases. [10] It is believed trauma may cause osteolysis by posttraumatic arterial hyperemia or a previous silent hamartoma may get activated. [1],[9] According to Thompson and Schurman, the disease is a primary aberration of vascular tissue in bone, related to hyperemic granulation tissue. [6] Young et al. stated endothelial dysplasia of blood and lymphatic vessels could lead to osteolysis. [19]

The clinical presentation varies with location and extent of the lesion. [4],[12] Multi-centric involvement is not a feature though few cases have been reported. [9],[11] It often takes many months or years before the offending lesion is correctly diagnosed. [20] It can present with pain, which may be abrupt or insidious in onset and may be associated with local swelling. [1],[3],[4] Pathological fracture, weakness of the extremity, atrophy and final deformity are well-known presentations. [1],[3],[4] Gorham's osteolysis can prove fatal when there is involvement of facial bones, thoracic cage or spinal column. [3],[20],[21],[22] Osteolysis of facial bones can cause respiratory compromise; involvement of the spine can interfere with function of spinal cord; and the lesion in bones forming thoracic cage can have hemangiomatous or lymphangiomatous mass invading pleura, lungs, mediastinum or thoracic duct with resulting chylous or non-chylous or hemorrhagic pleural effusion or pericardial effusion or both. [3],[9],[20],[21],[22],[23],[24] Patients with pleural or pericardial effusion can present with breathlessness, cough, fatigue or sudden death. [3],[22],[24] Nearly 17% of patients with thoracic cage involvement develop chylothorax, which may lead to hypoproteinemia, malnutrition, infection, lymphopenia and immunosuppression, which is fatal with a mortality rate of more than 50% reported. [3],[10],[13],[24] Fortunately in our case, the disease did not progress to involve adjacent bones and vicera.

Hematological and biochemical investigations are normal as was in our case, but are an important part of work-up to rule out other causes of osteolysis. [4],[10],[20] Radiographic changes were described by Resnick with intramedullary and subcortical lucencies resembling patchy osteoporosis in the early stages with subsequent atrophy, dissolution, fragmentation, disappearance of a portion of bone with tapering of remaining ends like that of a "sucked candy" [1],[4],[10],[25] New bone formation and sclerosis is characteristically absent. [10],[25] A pathological fracture may present radiographically with the absence of signs of healing and progressive resorption of fracture ends with the increase in the fracture gap and tapering of the fracture ends. [20],[25] CT, magnetic resonance imaging, bone scan, angiography and lymphangiography show variable non-specific findings. [4],[9],[12] Histopathological findings vary with the stage and demonstrate resorbing trabeculae surrounded by abundant thin walled capillaries, sinusoids or lymphatics and at a later stage by fibrous connective tissue. [4],[9],[20],[25],[26] Features of malignancy like nuclear atypia are characteristically absent. [26]

Gorham's disease is a diagnosis of exclusion. [27] Histopathological examination of the lesion along with clinicoradiological scenario is required to rule out other causes of osteolysis such a malignancy, infection, neuropathic, metabolic, inflammatory and immune mediated. [4],[6],[9],[10],[27] Heffez et al. suggested clinical and histopathological criteria for definitive diagnosis of vanishing bone disease [Table 2]. [26]
Table 2: Criteria for diagnosis of Gorham's osteolysis[26]

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Gorham's disease has an unpredictable clinical course and prognosis. [4],[12] The degree of osteolysis it causes before it undergoes spontaneous arrest cannot be predicted, which may last from months to years. [23] There are few cases in the literature where spontaneous resolution and reappearance of lost bone has occurred. [28]

Due to its rarity and unknown etiology there is no definitive treatment. [4],[12],[23] Currently, surgical excision and radiotherapy are the two most commonly used treatment modalities. [4],[27],[29] Bisphosphonates, calcitonin, vitamin D therapy, alpha 2b interferon, chemotherapy and many more have been tried with variable results. [3],[21],[29] There are reports of rapid clinical improvement of pain and stable clinical and radiological picture after low dose bisphosphonate therapy. [30] Same was true in our case also. Most of the published literature on Gorham's disease is in the form of case reports and it is not possible to predict whether an arrest of disease was spontaneous or due to treatment attempted. [9] Surgical treatment includes excision followed by reconstruction using bone graft or prosthesis. [3],[9],[21],[23],[27],[29] Results with bone grafting are poor due to resorption of the graft by the pathological tissue. [3],[9],[23],[27],[29] Radiotherapy is known to decrease the vascularity and promote fibrosis thus decreasing production of IL-6. [3],[9],[23] Various options for Gorham associated chylothorax or pericardial effusion include aspiration, parental nutrition, pleurectomy, pleurodesis, thoracic duct ligation, radiotherapy, alpha 2b interferon therapy or a combination of these. [9],[10]


  Conclusion Top


Gorham's disease is a diagnosis of exclusion with unpredictable course.

 
  References Top

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5.Hardegger F, Simpson LA, Segmueller G. The syndrome of idiopathic osteolysis. Classification, review, and case report. J Bone Joint Surg Br 1985;67:88-93.  Back to cited text no. 5
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16.Devlin RD, Bone HG 3 rd , 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.  Back to cited text no. 16
    
17.Hirayama T, Sabokbar A, Itonaga I, Watt-Smith S, Athanasou NA. Cellular and humoral mechanisms of osteoclast formation and bone resorption in Gorham-Stout disease. J Pathol 2001;195:624-30.  Back to cited text no. 17
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19.Young JW, Galbraith M, Cunningham J, Roof BS, Vujic I, Gobien RP, et al. Progressive vertebral collapse in diffuse angiomatosis. Metab Bone Dis Relat Res 1983;5:53-60.  Back to cited text no. 19
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22.Verma A, Mohan S, Kathuria MK, Phadke S, Baijal SS. Primary idiopathic osteolysis syndrome: Case report and review of literature. J Clin Diagn Res 2007;1:79-81.  Back to cited text no. 22
    
23.Ahlmann ER, Ma Y, Tunru-Dinh V. A rare case report of extensive polyostotic Gorham's disappearing bone disease involving the upper extremity. Case Rep Orthop 2011;2011:486756.  Back to cited text no. 23
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24.Feigl D, Seidel L, Marmor A. Gorham's disease of the clavicle with bilateral pleural effusions. Chest 1981;79:242-4.  Back to cited text no. 24
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25.van der Linden-van der Zwaag H, Onvlee GJ. Massive osteolysis (Gorham's disease) affecting the femur. Acta Orthop Belg 2006;72:261-8.  Back to cited text no. 25
    
26.Heffez L, Doku HC, Carter BL, Feeney JE. Perspectives on massive osteolysis. Report of a case and review of the literature. Oral Surg Oral Med Oral Pathol 1983;55:331-43.  Back to cited text no. 26
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29.Kiran DN, Anupama A. Vanishing bone disease: A review. J Oral Maxillofac Surg 2011;69:199-203.  Back to cited text no. 29
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30.Hammer F, Kenn W, Wesselmann U, Hofbauer LC, Delling G, Allolio B, et al. Gorham-Stout disease - Stabilization during bisphosphonate treatment. J Bone Miner Res 2005;20:350-3.  Back to cited text no. 30
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    Figures

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    Tables

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