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CASE REPORT Table of Contents   
Year : 2008  |  Volume : 51  |  Issue : 4  |  Page : 515-518
Skeletal angiomatosis - rare cause of bone destruction: A case report with review of literature


1 Department of Pathology, Gandhi Medical College, Bhopal, India
2 Department of Radiodiagnosis, Gandhi Medical College, Bhopal, India
3 Department of Orthopaedics, Gandhi Medical College, Bhopal, India

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   Abstract 

Classification of skeletal angiomatosis into aggressive and nonaggressive types is on the basis of their clinical behavior and pattern of skeletal involvement (regional and disseminated). Gorham's disease (massive osteolysis) is an aggressive form of skeletal angiomatosis that shows regional involvement, frequently involving the shoulder and hip areas. Cystic angiomatosis is a nonaggressive form of skeletal angiomatosis with multifocal involvement, predominantly affecting the trunk bones. The imaging modalities gave the diagnosis of cystic angiomatosis of humerus showing multicystic lytic areas. The histopathological differential diagnosis was cystic angiomatosis and Gorham's disease, as microscopically both are indistinguishable from each other. Both represent a complex network of dilated thin-walled capillaries growing in the marrow space associated with the destruction of bone and infiltration into the adjacent soft tissues. The case is presented because of its extreme rarity and due to the diagnostic dilemma, whether to label it as Gorham's disease or as cystic angiomatosis. Considering the site involved and its aggressiveness, the diagnosis is in favor of Gorham's vanishing bone disease as cystic angiomatosis is multicentric and nonaggressive, involving mostly vertebrae and skull with multicystic lytic lesions.

Keywords: Cystic angiomatosis, Gorham′s disease, massive osteolysis

How to cite this article:
Malik R, Malik R, Tandon S, Tandon P. Skeletal angiomatosis - rare cause of bone destruction: A case report with review of literature. Indian J Pathol Microbiol 2008;51:515-8

How to cite this URL:
Malik R, Malik R, Tandon S, Tandon P. Skeletal angiomatosis - rare cause of bone destruction: A case report with review of literature. Indian J Pathol Microbiol [serial online] 2008 [cited 2020 Apr 2];51:515-8. Available from: http://www.ijpmonline.org/text.asp?2008/51/4/515/43745



   Introduction Top


Skeletal angiomatosis typically presents in two distinct clinical settings.

  1. Cystic angiomatosis
  2. Massive osteolysis (Gorham's disease).


Cystic angiomatosis is a rare entity characterized by hamartomatous malformation of primitive vessels. [1] There are disseminated multifocal hemangiomas in the skeleton. The sites of extra skeletal involvement include soft tissues, lungs, liver and spleen.

Massive osteolysis is characterized by proliferation of thin-walled vascular channels with progressive osteolysis. [2] It affects the scapula, proximal end of humerus, femur, rib, iliac bone, ischium and sacrum in decreasing order of frequency. The process is usually monostotic, but occasionally can be polyostotic in character. As far as our search goes, not more than 200 cases have been described in the world literature. The case is being presented because of its extreme rarity.


   Clinical History Top


An 8-year-old female child presented with complaints of gradual onset of swelling of 8-month duration in the left upper arm from the tip of shoulder to just above elbow. The swelling was bony hard in consistency and painful on deep palpation. Shoulder and elbow movements were pain free with no distal neurovascular deficit. X-ray pictures showed multicystic expansile lytic areas involving the shaft and lower end of humerus with extension up to the juxta-articular region. The expansile mass was multiloculated with loss of cortical definition in almost the entire length of bone with the lesion extending into the adjacent soft tissues [Figure 1]. There was no evidence of calcification or host reaction. Radiological differential diagnosis included cystic angiomatosis, lymphangiomatosis and Gorham's Disease.

Pathological findings

The histological picture revealed the total destruction of bone that was replaced by large blood vascular spaces filled with red blood cells showing angiomatosis. Fibrous hyalinized stroma containing blood vascular spaces and proliferating capillaries were also observed [Figure 2]. There is evidence of extension of angiomatosis into the surrounding soft tissue and muscles. The histological picture of cystic angiomatosis and massive osteolysis are indistinguishable and very similar to each other.


   Discussion Top


Spontaneous resolution of bone was first reported by Jackson in 1838. [3] Since then a number of similar cases have been published under a variety of descriptive names, the most common of which are massive osteolysis, acute spontaneous absorption of bone, phantom bone and disappearing or vanishing bone disease.

The pathology of massive osteolysis was described by Gorham, Wright and Maxon in 1954. [4] In 1955, Gorham and Stout [5] concluded that progressive osteolysis was associated with angiomatosis of blood and lymphatic vessels and is pathologically different from hemangioma of bones. The process is usually confined to a specific area of bone, but may occasionally be generalized and associated with multiple cutaneous hemangiomas. [6] Massive osteolysis affects the scapula, proximal end of humerus, femur, ribs, iliac bone, ischium and sacrum in decreasing order of frequency. Involvement of facial bones was first presented by Romer. [7] Mandible is the most common site of osteolysis. The earliest changes are the foci of intramedullary and subcortical lucency resembling osteoporosis. [8],[9] Concentric reduction results in tapering of the involved bone, thereby creating an appearance that resembles a licked stick of candy. This is followed by complete disappearance of involved bone in severe cases, hence the term, vanishing bone disease. In this case, there is complete resorption of bone as it happens in severe cases in late stages.

In cystic angiomatosis, radiographs reveal lytic lesions that appear to contain residual lamellar bone and foci of reactive woven bone. Radiolucent lesions with a soap bubble or honeycomb appearance are present. In the present case, imaging modalities were more in favor of cystic angiomatosis [Figure 1]. The process may be painless, progressing rapidly till the bone is replaced by fibrous connective tissue surrounding a cavity composed of thin-walled capillaries. There is no joint involvement, and the patients do not complain of severe symptoms. Most reports are loss of strength, increasing pain, difficulty in walking when it involves lower limbs. A pathological fracture may reveal the disease, while skin pallor, swelling of the affected area, shortening and bowing of an extremity and scoliosis are also reported. In cases of vertebral localization, neurological signs may be present. When the chest is involved, pleural effusion called chylothorax may develop. However, clinical signs are usually mild compared to radiological changes. [10] In this case, the patient had a gradual onset of swelling that was painful on deep palpation. She had a pain-free shoulder and elbow movements. The age of onset has been reported from 1 month to 75 years with a peak in the second and third decades. There is no particular sex or race predilection and no associated endocrine, metabolic or immunological disorder. [11] The patient in our case was an 8-year-old and had no associated disorder.

Gorham and Stout [5] demonstrated histologically that in massive osteolysis, there was bone destruction by anastomosing vascular spaces lined by flattened endothelium. In late cases, variable amount of fibrous stroma surround these vascular spaces. Although histologically benign, the angiomatous proliferation tends to infiltrate adjacent soft tissue. In the present case, the histological picture was similar to that described by Gorham with large amount of fibrous tissue surrounding the vascular spaces. Both massive osteolysis and cystic angiomatosis shows a picture of hemangioma that is predominantly cavernous. In the radiographs, massive osteolysis appears as lytic lesions. Massive osteolysis involves the shoulder and hip areas and begins in the trunk bones. [12] In the appendicular skeleton, the proximal parts of the extremity bones, the proximal humerus and femur are typically involved. In the present case, the site involved is more in favor of massive osteolysis being located in the humerus.

Patients of cystic angiomatosis also characteristically reveal multifocal hemangiomas, and the sites of extra skeletal involvement are soft tissues, lung, liver and spleen. The disease is said to be congenital, which becomes clinically evident during the first decade of life. However, in the present case, after thorough screening by multiple X-rays, ultrasounds, etc., no multifocal or soft tissue and visceral hemangiomas diagnostic of cystic angiomatosis were observed.

Heffez [13] et al. suggested eight criteria for definitive diagnosis of massive osteolysis.

  1. Positive biopsy in terms of angiomatous tissue presence.
  2. Absence of cellular atypia.
  3. Minimal or no osteoclastic response and absence of dystrophic calcification.
  4. Evidence of local bone progressive resorption.
  5. Non-expansive, non-ulcerative lesion.
  6. Absence of visceral involvement.
  7. Osteolytic radiographic pattern.
  8. Negative hereditary, metabolic, neoplastic, immunologic and infectious etiology.


In the present case, there is angiomatous tissue, absence of atypia, no osteoclastic response, evidence of bone resorbtion, nonulcerative lesions and absence of visceral involvement. There is no hereditary, metabolic, neoplastic immunologic or infectious etiology.

The etiology of Gorham's syndrome or massive osteolysis is unknown. However, in 1978, Mundy et al. [14] , have stated that massive osteolysis represents a local derangement of osteoclastic activity. Osteoclasts have been noticed in few cases, but Gorham and Stout noted a lack of osteoclasts (osteoclasts are generally but not always present and their number is usually low). [15] In the present case, no osteoclasts were observed. In 1977, Heyden et al. [16] suggested that angiomatosis might induce local hypoxia and acidosis, and this might favor the activity of local hydrolytic enzymes. Such environment may induce chelation of calcium ions. [17] Increased activity of acid phosphatase and leucine aminopeptidase in perivascularly arranged cells was reported by Heyden et al. These findings led them to suggest that the source of osteolysis may be pericyte or osteoclast precursor mononuclear cells, thereby suggesting that these cells may participate in the resorptive process. Thomson and Schurman [18] proposed that the disease was caused by unrestricted growth of granulation tissue, which exerts pressure that results in the resorption of bone similar to the resorptive process in enlarged aneurysms. Moreover, in the present case, there was abundant granulation and fibrous tissue that might have been the cause of bone resorption. In 1937, Lereche [19] had proposed posttraumatic arteriole hyperemia as the mechanism responsible for bone resorption. Recently, elevated levels of IL-6 were detected in the earlier course of this disease by Devlin, [20] thereby suggesting osteoclastic activity. The lack of signs and symptoms of acute inflammation would imply that prostaglandins, which are implicated in osteolysis associated with malignant diseases, are not involved in this process. [21] Another theory has advanced the possibility of agenesia of thyroid C cells that secrete calcitonin; this agenesia could induce osteolysis. [22] The disease is thought to occur only in adolescents and young adults. [23] Cannon [24] and Jacob [25] reported a history of minor trauma in patients of osteolysis. The disease usually stabilizes spontaneously and the angiomatous areas are replaced by fibrous tissue.

Most authors agree that operative treatment is a choice between amputation and local resection.

The case is being presented because of its extreme rarity as per the literature published worldwide. Considering the age and site involved, the diagnosis proceeds towards Gorham's vanishing bone disease as cystic angiomatosis is usually multicentric and affects commonly the vertebrae and skull. Histopathological features of cystic angiomatosis and Gorham's disease are the same, as observed in this case. However, the radiological picture gives a different scenario as described. Skeletal angiomatosis, be it massive osteolysis or cystic angiomatosis, still needs to be further researched upon as far as the diagnosis and treatment along with the etiopathogenesis is concerned.

 
   References Top

1.Cobby M, Watt I. Tumors and tumor like conditions of bone (2). In: David Sutton Text Book of Radiology and Imaging. 7 th ed. Churchill Living Stone; 2003. p. 1287-320.  Back to cited text no. 1    
2.Choma ND, Biscotti CV, Bauer TW, Mehta AC, Licata AA. Gorham's Disease: Case report and review of literature. Am J Med 1987;83:1151-6.  Back to cited text no. 2  [PUBMED]  
3.Jackson JB. A boneless arm. Boston Med Surg J 1838;18:368-9.  Back to cited text no. 3    
4.Gorham LW, Wright AW, Shultz HH, Maxon FC Jr. Disappearing bone: A rare form of massive osteolysis report of two cases, one with autopsy finding. Am J Med 1954;17:674-82.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]
5.Gorham LW, Stout AP. Massive osteolysis acute spontaneous absorption of bone, phantom bone, disappearing bone: its relation to haemangiomatosis. J Bone Joint Surg Am 1955;37:985-1004.  Back to cited text no. 5  [PUBMED]  
6.Fornasier VL. Haemangiomatosis with massive osteolysis. J Bone Joint Surg Br 1970;52:444-51.  Back to cited text no. 6  [PUBMED]  [FULLTEXT]
7.Romer O, Berlin, Die Pathologic der Zohn. Hand buchderspeziellen pathologic se how, anatomy and histologic. Berlin: Springles Verlag; 1924. p. 135-499.  Back to cited text no. 7    
8.Johnson PM, McClure JG. Observations on massive osteolysis. Radiology 1958;71:28-42.  Back to cited text no. 8  [PUBMED]  
9.Bullough PG. Massive osteolysis. N Y State J Med 1971;71:2267-78.  Back to cited text no. 9  [PUBMED]  
10.Vinee P, Tanyu MO, Haueastein KH, Sigmund G, Stover B, Adler CP. CT and MRI of Gorham syndrome. J Comput Assist Tomogr 1994;18:985-9.  Back to cited text no. 10    
11.Bouloux GF, Walker DM, McKellar G. Massive osteolysis of the mandible: Report of a case with multifocal bone loss. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999;87:357-61.  Back to cited text no. 11  [PUBMED]  [FULLTEXT]
12.Howard D, Dorfman, Bogdan Czeriniak, In: Mosby, editor. Bone Tumors. 1998. p. 729-814.  Back to cited text no. 12    
13.Heffez L, Doku HC, Carter BL, Teeney JE. Perspective 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. 13    
14.Mundy GR, Varani J, Orr W Gondek MD, Ward PA. Resorbing bone is chemotactic for monocytes. Nature 1978;275:132-5.  Back to cited text no. 14    
15.Klein M, Metelmann HR, Gross U. Massive osteolysis (Gorham Stout) in the maxillo facial region: An unusual manifestation. Int J Oral Maxillofac Surg 1996;25;376-8.  Back to cited text no. 15    
16.Heyden G, Kindbloom LG, Nielsen JM. Disappearing bone disease: A clinical and histological study. J Bone Joint Surg Am 1977;59:57-61.  Back to cited text no. 16    
17.Nisbet JA, Helliwell S, Nordin BE. Relation of lactic and citric acid metabolism to bone resorption in tissue culture. Clin Orthop Relat Res 1970;70:220-30.  Back to cited text no. 17  [PUBMED]  
18.Thompson JS, Schurman DJ. Massive Osteolysis. Clini Orthop Relat Res 1974;103:206-11.  Back to cited text no. 18    
19.Leriche R. A propos des osteolysis d'origine indeterminee Mem Acad Chir 1937;63:419-21.  Back to cited text no. 19    
20.Devlin RD, Bono HG 3 rd , Roodman GD. Interleukin - 6: A potential mediator of the massive osteolysis in patients with Gorham-Stout disease. J Clin Endocrinal Metab 1996;5:1893-7.  Back to cited text no. 20    
21.Samuel AW, Galsako CSB, Rhuston S, Lacey F. The response of tumor mediated osteolysis to diphosphonates and prostaglandin inhibitor.J Bone Joint Surg Br 1980;62:536.  Back to cited text no. 21    
22.Korsic M, Jelasic D, Potocki K, Giljeviζ Z, Aganovic I. Massive osteolysis in a girl, with agenesis of thyroid C Cells. Skeletal Radiol 1998;27:525-8.  Back to cited text no. 22    
23.Sage MR, Allen PW. Massive Osteolysis: Report of a case. J Bone Joint Surg Br 1974;56:130-5.  Back to cited text no. 23  [PUBMED]  
24.Cannon SR. Massive osteolysis: A review of seven cases. J Bone Joint Surg Br 1986;68:24-8.  Back to cited text no. 24  [PUBMED]  [FULLTEXT]
25.Jacobs P. Post-traumatic osteolysis of the outer end of the clavicle. J Bone Joint Surg Br 1964;46:705-7.  Back to cited text no. 25  [PUBMED]  [FULLTEXT]

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Correspondence Address:
Reeni Malik
Malik Bhawan, 16 Ridge Road, Idgah Hills, Bhopal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.43745

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