Vanishing Bone Disease

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Journal of Regenerative Biology and Medicine ISSN: 2582-385X Tamilthangam P, et al., 2021- J Regen Bio Med Review Article

Vanishing Bone Disease: The unseen 1Senior lecturer, Department of Oral Seen Pathology and Microbiology, 1 2 Periyasamy Tamilthangam, * Jeyaraman Swathiraman Vivekanandha Dental College for Women, Thangavelu kavin3, Aravind RJ4, Ramesh Narendar5, India 6 7 S.P.Indra kumar and Meyyappan Suruthi keerthana 2Senior lecturer, Department of Oral Pathology and Microbiology, Vivekanandha Dental College for Women, Abstract India Vanishing bone disease (Gorham disease) is an uncommon bone pathology that is characterized by a continuous replacement of bone 3Professor and Head, Department of oral with the abundance of endothelial cells. It is usually nonfamilial, but and maxillofacial surgery, Vivekanandha Dental College for Women, India maybe familial and occurs periodically in children and young adults. The lesion is usually nonexpansile and monocentric, rarely polyostotic, 4Professor, Department of oral and but locally aggressive. Though asymptomatic cases have been maxillofacial surgery, Vivekanandha Dental College for Women, India reported, clinical symptoms include pain, functional disability and swelling of the involved area. Pathologic fracture of the involved bone 5Reader, Department of oral and has also been noted in some patients. Surgical treatment, as well as maxillofacial surgery, Vivekanandha radiotherapy, forms the main basis of treatment modality. Dental College for Women, India

6Senior lecturer, Department of oral and Keywords: Gorham disease; Pathology; Surgical treatment; maxillofacial surgery, Vivekanandha Radiotherapy; Endothelial cells. Dental College for Women, India

7Intern, Vivekanandha Dental College for Introduction Women, India Vanishing bone disease (Gorham disease) is an uncommon bone pathology that is characterized by a continuous *Corresponding Author: Tamilthangam P, et al, 1Senior lecturer, Department of replacement of bone with the abundance of endothelial cells. As Oral Pathology and Microbiology, the name indicates, ‘‘Vanishing bone disease’’, is a disease where Vivekanandha Dental College for Women, India involved bone begins vanishing or fading. It has various names which include massive osteolysis, progressive osteolysis, Received Date: 03-01-2021 Gorham’s disease, Gorham stout syndrome, phantom bone Published Date: 04-01-2021 disease, idiopathic osteolysis, hemangiomatosis and Copyright© 2021 by Tamilthangam P, et al., lymphangiomatosis [1]. Gorham stout disease was first All rights reserved. This is an open access article distributed under the terms of the published by J.B.S. Jackson in the year 1838 and he proposed a Creative Commons Attribution License, title “A Boneless Arm”, for a patient in which the whole which permits unrestricted use, humerus slowly vanished for some years [2]. The disease was distribution, and reproduction in any medium, provided the original author and first named after Lemuel Whittington Gorham and Arthur source are credited. Purdy stout as Gorham and stout syndrome [3]. It is usually nonfamilial, but maybe familial and occurs periodically in children and young adults.

The lesion is usually nonexpansile and 1. Endothelial cell Theory: According to monocentric, rarely polyostotic, but locally Gorham and Stout, osteolysis is induced by aggressive [4]. In 1985 Hardegger et al. the abundance of endothelial-lined vessels framed a classification for idiopathic which affect the local milieu by altering its osteolytic lesions based on their clinical pH or by exerting mechanical force and features. The 5 types are as follows: constant rise in the stream of blood. The 1. Hereditary multicentric osteolysis further reason for resorption of bone is with the dominant transmission. decreased in the blood stream in the Type involved region ensuing information of 2. Hereditary multicentric osteolysis confined acidic environment which with the recessive transmission. consecutively stimulate the action of 3. Nonhereditary multicentric hydrolytic enzymes. According to few osteolysis with nephropathy. pieces of literature these endothelial-lined 4. Gorham’s massive osteolysis. channels more likely to be lymphatic. But, This may occur at any age; bone is replaced the rationale after this lymph vessel by hemangiomatous tissue. It is neither a formation is uncertain [1]. hereditary condition nor associated with 2. Osteoclasts: The function of osteoclasts nephropathy. The lesion may involve any is under research for a long period. It has part of the bone but it is benign; osteolysis been found that the presence of bone- stops after a few years. Type V: Autosomal resorbing osteoclasts in the histological recessive childhood carpotarsal osteolysis evaluation of the surgical sample. without nephropathy [5]. The condition Conversely, a large number of researchers can involve one or many bones of the were unsuccessful to show the occurrence predominantly skull, upper and lower of bone-resorbing osteoclasts in the lesion. extremities, spine and pelvis. The clinical It is due to the assessment of the lesion at symptoms include pain, functional various stages of the lesion from the active disability and swelling of the involved area, stage versus the quiescent stage. It has also although asymptomatic cases have been been found that the osteoclasts or the reported. Pathologic fracture of the progenitor cells are more susceptible to involved bone has also been noted in some osteoclasts-inducing factors [1]. It patients [6]. This review gives an overview correlates with the findings of Devlin et al of the pathophysiology, the clinical (1996) who analyzed that there is an appearance, the diagnostic approach and increased activity of the osteoclasts which management of this rare disease. is responsible for the massive osteolysis of bone and Interleukin-6 seems to play a Pathophysiology vital role and elevation of IL-6 in the serum of patients with Massive osteolysis [7]. Several theories have been proposed to 3. Osteoblasts: In the periphery of the elucidate the pathogenesis of this osteolytic zone, the action of the osteoblast condition. Nevertheless pathophysiology is normally appeared to be amplified. On remains unclear. Some of the main theories the other hand, in patients affected with are: massive osteolysis, the compensatory process of bone remodeling was not

Tamilthangam P | Volume 3; Issue 2 (2021) | Mapsci-JRBM-3(2)-060 | Review Article Citation: Swathiraman J, Thangavelu K, Aravind RJ, Ramesh N, Kumar S.P.I, Meyyappan, Keerthana S. Vanishing Bone Disease: The unseen Seen. J Regen Biol Med. 2021;3(2):1-5. DOI: https://doi.org/10.37191/Mapsci-2582-385X-3(2)-060 detected in the area of concern. However, joint involvement by Gorham disease can the justification of limited inhibition of be misdiagnosed for TMJ dysfunction [9,11]. osteoclast formation is still in investigation Heffeze et al. [13]. described the criteria for [1]. the diagnosis of massive osteolysis as:  Minimal or no osteoblastic Clinical Features response and lack of dystrophic Vanishing bone disease is an uncommon calcification; condition of osteolysis which affects bone  Positive biopsy for angiomatous in diverse regions [8]. It is generally tissue; monocentric, with aggressive behavior and  Absence of cellular atypia; causes bone resorption the which may  Evidence of local progressive bone extend into adjacent soft tissues[9]. Many resorption; researchers believe that a massive  Non-expansile, non-ulcerated osteolysis is an aggressive form of skeletal lesion; angiomatosis that is related to vascular  Absence of visceral involvement; proliferation and shows regional  Osteolytic radiographic pattern; involvement, frequently involving the  Negative hereditary, metabolic, shoulder and hips and has been referred to neoplastic, immunologic or as hemangiomatosis of bone [10]. infectious etiology. Gorham disease has been recognized in Several cases in the maxillofacial region patients up to 70 years, although it present with an initial swelling. Anavi et al. commonly affects children and young reviewed that the mean duration of individuals. Most of the patients describe symptoms before diagnosis was 6.4 years an event of minor trauma previous to the with the initial histopathological diagnosis diagnosis [11]. Commonly osteolysis inaccurate in 45% of cases, which involves a solitary bone or the bones linked highlights the difficulty faced by the by a common joint, such as the shoulder. clinician and the pathologists when It usually affects the shoulder along with attempting to diagnose the condition [14]. the cranium and pelvic girdle. It is often painless but spontaneous fractures are Investigations common and may be the primary sign of the disease. Lack of healing of the bone The standard laboratory tests are usually following the fracture is the characteristic within normal limits and do not help in the of the disease [12]. diagnosis of massive osteolysis. The serum It predominantly affects the mandible alkaline phosphatase level may be slightly followed by the maxilla. Signs and elevated. Radiographs, and imaging symptoms comprise pain, loosening of techniques like computed tomography teeth, malocclusion, mandibular deviation (CT), and magnetic resonance imaging and facial abnormality. When there is a (MRI) can be used. 15 Radiological changes posterior mandibular displacement have been classified into four stages as (i) obstructive sleep apnea syndrome is radiolucent foci, resembling patchy obvious. The mandibular fracture may also osteoporosis; (ii) shrinkage of shaft of occur. Temporomandibular bones by tapering of the ends (“Sucked candy” appearance); (iii) complete Tamilthangam P | Volume 3; Issue 2 (2021) | Mapsci-JRBM-3(2)-060 | Review Article Citation: Swathiraman J, Thangavelu K, Aravind RJ, Ramesh N, Kumar S.P.I, Meyyappan, Keerthana S. Vanishing Bone Disease: The unseen Seen. J Regen Biol Med. 2021;3(2):1-5. DOI: https://doi.org/10.37191/Mapsci-2582-385X-3(2)-060 resorption of the bone unless there is but are present in medullary and cortical spontaneous arrest; and (iv) progression to regions of bones in patients with GSD [2]. adjacent bones and joints [16]. Panoramic The differential diagnosis of the disease radiograph shows the decreased vertical includes hereditary multicentric osteolysis, dimension of the mandibular body with osteolysis with nephropathy, osteomyelitis, bone resorption extending till the basal rheumatoid arthritis, osteolysis due to bone [15]. Initial x-rays show changes that intraosseous malignacies, hyperpara- resemble patchy osteoporosis. At a later thyroidism, eosinophilic granuloma and stage, bone deformity occurs with loss of osteolysis due to diseases of the central bone mass and concentric shrinkage in the nervous system, like syringomyelia and long bones of upper and lower extremities. tabes dorsalis [6]. In due course, near-complete bone The diagnosis of Gorham's disease should resorption occurs, resulting in the be suspected or made only after excluding appearance of the so-called “vanishing other common underlying causes of bone” disease [6]. osteolysis. Aneurysmal bone cyst, extensive metastatic bone disease and osteosarcoma Histopathology are some of the lesions that resemble vanishing bone disease and can be The microscopic findings in massive confirmed with a biopsy. When Gorham's osteolysis contrast sharply with the striking disease involves the mandible, the role of clinical and radiographic findings. In the the periodontologist is extremely early stages of the disease, specimens important. Gorham's disease should be removed from the radiolucent defects included among the pathologic entities consist of a nonspecific vascular mimicking periodontal disease on the proliferation intermixed with fibrous radiograph, such as inflammatory disease connective and a chronic inflammatory (e.g. osteomyelitis), endocrine disease (e.g. infiltrate of lymphocytes and plasma cells. hyperparathyroidism), intraosseous The vascular proliferation varies in malignancies or metastases, lymphoma, intensity and is characterized by thin- histiocytosis X, mainly eosinophilic walled channels that may be capillary or granuloma, infective process (e.g. cavernous Osteoclastic reaction in the tuberculosis and actinomycosis) and adjacent bone fragments is usually not odontogenic tumors [3]. conspicuous. In the later stages, tissue from the area of bone loss is more Treatment collagenized [11]. Evidence of repair by new bone formation is not seen. Two commonly Surgery and radiotherapy form the two used molecular markers of lymphatic bases of the treatment. Surgical endothelial cells are LYVE-1, a receptor for management is required for localized the glycosaminoglycan hyaluronan, and disease and accessible areas. In case of the podoplanin, a transmembrane glycoprotein inaccessible region or multiregional recognized by the antibody D2-40. These involvement or recurrent cases, markers have revealed that lymphatic radiotherapy is indicated. It is advisable to vessels are not present in normal bones, use a minimal dose of radiation as an adjuvant modality through an active phase

References

1. Gulati U, Mohanty S, Dabas J, Chandra N. “Vanishing bone disease” in maxillofacial region: a review and our ExperienceJ Maxillofac Oral Surg. 2015;14(3):548-57. 2. Dellinger MT, Garg N, Olsen BR. Viewpoints on vessels and vanishing bones in Gorham–Stout disease. Bone. 2014;63:47-52. 3. Saify FY, Gosavi SR. Gorham's disease: A diagnostic challenge. J Oral Maxillofac Surg Med Pathol: JOMFP. 2014;18(3):411. 4. 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(3):399. 5. Hardegger F, Simpson LA, Segmueller G. The syndrome of idiopathic osteolysis. Classification, review, and case report. J Bone Joint Surg Am. British volume. 1985;67(1):88-93. 6. Nikolaou VS, Chytas D, Korres D, Efstathopoulos N. Vanishing bone disease (Gorham-Stout syndrome): A review of a rare entity. World J Orthop. 2014;5(5):694. 7. Devlin RD, Bone 3rd HG, Roodman GD. Interleukin-6: a potential mediator of the massive osteolysis in patients with Gorham-Stout disease. J Clin Endocrinol Metab. 1996;81(5):1893-7. 8. Escande C, Schouman T, Françoise G, Haroche J, Ménard P, Piette JC, Bertrand JC, Ruhin-Poncet B. Histological features and management of a mandibular Gorham disease: a case report and review of maxillofacial cases in the literature Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008;106(3):e30-7. 9. Raghuveer HP, Jayalekshmy R. Gorham's massive osteolysis of the mandible–a progressive radiographic presentation. Dentomaxillofac Radiol. 2009;38(5):292-5. 10. 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(4):515. 11. Neville BW, Damm DD, Allen CM, Chi AC. J Oral Maxillofac Surg. Elsevier Health Sciences; 2015. 12. Möller 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 Am. British volume. 1999;81(3):501-6. 13. 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 Oral Radiol Endod. 1983;55(4):331-43. 14. Anavi Y, Sabes WR, Mintz S. Gorham's disease affecting the maxillofacial skeleton. Head & neck. 1989;11(6):550-7. 15. Kiran DN, Anupama A. Vanishing bone disease: a review. J Oral Maxillofac Surg. 2011;69(1):199-203. 16. Prasanna R, Sankar J, Ramachandran P. Gorham's Disease: Vanishing Bone Syndrome. Indian J Pediatr. 2009;46(3).