Indian Journal of Pathology and Microbiology

CASE REPORT
Year
: 2012  |  Volume : 55  |  Issue : 3  |  Page : 399--401

Vanishing bone disease (Gorham's disease) - A rare occurrence of unknown etiology


Sumit Ray1, Subhalakshmi Mukhopadhyay1, Ranjana Bandyopadhyay2, Swapan K Sinha1,  
1 Department of Pathology, Medical College, Kolkata, India
2 Department of Pathology, Burdwan Medical College, Burdwan, West Bengal, India

Correspondence Address:
Sumit Ray
Assistant Professor, «SQ»Anjali«SQ», 6/1 J, Raja Bagan Lane, P.O.- Ghugudanga, Kolkata- 700030, West Bengal
India

Abstract

A 20-year-old male patient presented with painful swelling around left elbow joint. Radiographic examination revealed osteolytic lesion with pathological fracture of lower end of humerus and upper radius. Upper end of ulna was completely absent along with bony erosion. Histopathology of the bony tissue revealed hemangioma-like lesion composed of vascular channels lined by benign endothelium replacing bone. The diagnosis of Gorham«SQ»s massive osteolysis was made. Gorham«SQ»s disease is a benign self-limiting condition affecting any age, may involve any part of the skeleton and is characterized by replacement of bone by hemangiomatous tissue resulting in formation of lesions exhibiting massive osteolysis, which may be to the extent of disappearance of the affected bone in radiograph. This nonhereditary case was not associated with nephropathy, which is often a coexistent condition. The case is being reported for its rarity.



How to cite this article:
Ray S, Mukhopadhyay S, Bandyopadhyay R, Sinha SK. Vanishing bone disease (Gorham's disease) - A rare occurrence of unknown etiology.Indian J Pathol Microbiol 2012;55:399-401


How to cite this URL:
Ray S, Mukhopadhyay S, Bandyopadhyay R, Sinha SK. Vanishing bone disease (Gorham's disease) - A rare occurrence of unknown etiology. Indian J Pathol Microbiol [serial online] 2012 [cited 2019 Oct 24 ];55:399-401
Available from: http://www.ijpmonline.org/text.asp?2012/55/3/399/101758


Full Text

 Introduction



Gorham's disease, (massive osteolysis of Gorham, vanishing bone disease, Gorham-Stout syndrome) is a rare idiopathic disorder characterized by osteolysis often associated with uncontrolled, destructive proliferation of vascular or lymphatic capillaries within bone and surrounding soft tissue, often spreading to contiguous bones with progressive resorption of whole or a part of the bone. [1],[2],[3] It is usually nonfamilial, but may be familial and occurs sporadically in children and young adults. [1],[2] The lesion is usually nonexpansile and monocentric, rarely polyostotic, but locally aggressive and the presentation follows at least five different clinical types. [2] A case of nonfamilial type of Gorham's disease is being presented here.

 Case Report



A previously healthy 20-year-old man was admitted with rapidly progressive pain and difficulty in moving left elbow joint since last 10 days, with obvious swelling. The pain persisted despite conservative therapy. There was history of trivial trauma 2 months back. Constitutional symptoms such as fever, anorexia, or weight loss were absent. There was no significant family history: parents, five brothers and one sister were all apparently healthy without any similar ailment. On physical examination, range of motion of the left elbow was limited with tenderness. Other skeletal examinations were normal. No axillary lymph nodes were palpable. No neurovascular deficit was present. Hematological investigations were unremarkable apart from eosinophilia and mild elevation of alkaline phosphatase. Hemoglobin-14.9 gm/dl, Total Leukocyte Count-8,100/cumm, Erythrocyte Sedimentation Rate-8 mm, Prothrombin Time-13.7 (control-13.5). Serum urea, creatinine and abdominal ultrasound scan were within normal limits. Thyroid hormone profile and serum electrolyte levels were unremarkable. Serum protein electrophoresis showed no abnormal bands. Radiological examination revealed bony erosion with pathological fracture of lower end of humerus and upper radius. Upper end of ulna was completely absent along with bony erosion [Figure 1]. Skeletal radiology of other bones was not significant. Fine needle aspiration cytology smears showed mainly small lymphocytes, neutrophils, eosinophils and histiocytic cells in a hemorrhagic and proteinaceous background. Bone biopsy was performed and histological examination of the specimen showed broken trabeculae of lamellar bone with intertrabecular areas occupied with lobules of precapillary and mildly telangiectatic capillary-sized blood vessels embedded in the proliferating cellular fibrous connective tissue. No new bone formation was seen [Figure 2]. On the basis of the histopathology, radiological, biochemical and clinical features, Gorham's disease was diagnosed. The patient was treated conservatively for the fracture and managed medically. He is currently under follow-up, being treated by antiosteoclastic drugs, failing to achieve any arrest in the relentless downhill course.{Figure 1}{Figure 2}

 Discussion



Our case is of idiopathic etiology and nonfamilial type of Gorham's disease, without neurological involvement. Radiology in association with histopathology clinched the diagnosis in our case. Radiographically, the destructive changes seen in the left upper limb mimicked malignant neoplasm due to aggressive osteolytic destruction with ill-defined margins. Soft tissue involvement was limited to the region around the bony abnormality [Figure 1],[Figure 2]. Any part of the skeletal system may be affected, especially bones that develop by intramembranous ossification, with the shoulder girdle and upper extremities being the most common. The types described in the literature are as follows: Type I: Hereditary multicentric osteolysis with dominant transmission. Type II: Hereditary multicentric osteolysis with recessive transmission. Type III: Nonhereditary multicentric osteolysis with nephropathy. Type IV: Gorham's massive osteolysis. This may occur at any age; bone is replaced by hemangiomatous tissue. It is neither a hereditary condition nor associated with nephropathy. The lesion may develop in any part of the skeleton but it is benign; osteolysis stops after a few years. Type V: Autosomal recessive childhood carpotarsal osteolysis without nephropathy. [2] It is therefore evident that our case being a sporadic one, having no nephropathy, possibly belongs to type IV but the course is relentlessly progressive. The first stage of hemangiomatosis is characterized by vascular proliferation in connective tissue. This explains some of the pathology reports of Gorham's disease as "skeletal hemangioma". Second is the stage of fibrosis that replaces the absorbed bone. [3],[4],[5] Common differential diagnoses including hereditary multicentric osteolysis, essential osteolysis with nephropathy, metastasis, osteomyelitis and rheumatoid arthritis. A clinically suspicious case must be confirmed by biopsy of the lesion, and the diagnosis should be made only after carefully excluding other causes of osteolysis such as skeletal angiosarcoma, hereditary osteolysis and osteolysis secondary to metabolic, neoplastic, infectious and immunological etiologies. [3],[4],[5],[6] The mechanism of bone resorption in this disease is unclear. Trauma, local hypoxia, acidic environment and some hydrolytic enzymes such as acid phosphatase and leucine aminopeptidase can cause bone destruction. [7],[8] Whether osteoclasts are involved in the mechanism of bone destruction remains controversial as these cells are not found in increased number locally. There may be an increase in the sensitivity of osteoclast precursors to humoral factors. This promotes osteoclast formation and bone resorption operating at the level of the bone microenvironment. [9]

The histopathologist should be cautious that the diagnosis of vanishing bone disease can be made only in correlation of clinical presentation with plain radiographs of skeletal system and histopathlogical findings of hemangiomatous or lymphangiomatous vascular proliferation in bone biopsy; and by exclusion of other pathological causes of severe osteopenia or osteolysis.

 Acknowledgments



This work has not been presented at any national or international medical society.

The manuscript has been read and approved by all the authors, requirements for authorship criteria have been met, and each author believes that the manuscript represents honest work.

References

1Aviv 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;56:184-90.
2Hardegger F, Simpson LA, Segmueller G. The syndrome of idiopathic osteolysis: Classification, review, and case report. J Bone Joint Surg Br 1985;67:89-93.
3Yoo SY, Hong SH, Chung HW, Choi JA, Kim CJ, Kang HS. MRI of Gorham's disease: findings in two cases. Skeletal Radiol 2002;31:301-6.
4Sato K, Sugiura H, Yamamura S, Mieno T, Nagasaka T, Nakashima N. Gorham massive osteolysis. Arch Orthop Trauma Surg 1997;116:510-3.
5Moller 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;81:501- 6.
6Spieth 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;26:659-63.
7Pazzaglia UE, Andrini L, Bonato M, Leutner M. Pathology of disappearing bone disease: A case report with immunohistochemical study. Int Orthop 1997;21:303-7.
8Hirayama 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.
9Turra 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.