• Users Online: 122
  • Print this page
  • Email this page


 
 
Table of Contents
CASE REPORT
Year : 2021  |  Volume : 8  |  Issue : 4  |  Page : 111-114

Vanishing bone disease: Decoding the rare entity of Gorham–Stout disease


1 Assistant Professor, MES Dental College, Malappuram, Kerala, India
2 HOD, MES Dental College, Malappuram, Kerala, India
3 Junior Resident, MES Dental College, Malappuram, Kerala, India

Date of Submission27-Sep-2021
Date of Acceptance26-Oct-2021
Date of Web Publication23-Dec-2021

Correspondence Address:
Dr. Sooraj Soman
MES Dental College, Malappuram, Kerala
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpcdr.ijpcdr_33_21

Rights and Permissions
  Abstract 


Vanishing bone disease is a rare entity with an obscure cause and undetermined pathophysiology and characterized by spontaneous and progressive resorption of bones. To date, the etiology of Gorham–Stout syndrome is still controversial. However, LYVE-1, a receptor, and podoplanin, a transmembrane glycoprotein identified by the antibody D2-40, are two extensively used molecular markers of lymphatic endothelial cells. These markers do exist in the medullary and cortical portions of Gorham–Stout disease (GSD) patients' bones. The following case report describes a case of 32-year-old male with GSD involving the maxilla with a brief discussion on etiopathogenesis, clinical features, radiological and histological findings, and diagnosis with treatment options.

Keywords: Gorham–Stout disease, Gorham–Stout syndrome, lymphangiomatous proliferation, massive osteolysis, vanishing bone disease


How to cite this article:
Soman S, Aslam S, Thomas T, Roy A, Sruthi T S, Raj S. Vanishing bone disease: Decoding the rare entity of Gorham–Stout disease. Int J Prev Clin Dent Res 2021;8:111-4

How to cite this URL:
Soman S, Aslam S, Thomas T, Roy A, Sruthi T S, Raj S. Vanishing bone disease: Decoding the rare entity of Gorham–Stout disease. Int J Prev Clin Dent Res [serial online] 2021 [cited 2022 May 19];8:111-4. Available from: https://www.ijpcdr.org/text.asp?2021/8/4/111/333544




  Introduction Top


Vanishing bone disease is an uncommon kind of osteolysis that was first reported by Jackson in 1838. It has an obscure cause and undetermined pathophysiology. It is characterized by complete dissolution of the involved bone.[1] Vanishing bone disease is also known as massive osteolysis, Gorham–Stout disease (GSD), Morbus–Gorham–Stout syndrome, idiopathic massive osteolysis, and phantom bone disease. GSD is a rare benign condition characterized by the destruction of bone matrix and the proliferation of vascular structures resulting in enhanced osteolysis of the bone.[2]

The condition can strike anyone at any age, but it is most common in the second and third decades of life, with no obvious gender, race, or geographic preference.[3] These anomalies are not cancerous, but rather developmental in origin, as they worsen through time and manifest in a variety of tissues. GSD can affect any area of the skeleton; however, the shoulders and pelvis are the most frequently affected areas. About 50 cases of Gorham's disease involving maxillofacial region are reported till now.[4]


  Case Report Top


A 32-year-old male patient reported to our unit with a complaint of pain and swelling along with pus discharge from upper right back tooth region since 1 year. Orthopantomogram (OPG) was suggestive of radiolucency in the right maxillary sinus region involving the roots of 13, 14, 15 and 16 [Figure 1]a. The computed tomography (CT) was suggestive of expansile lytic lesion involving the alveolar process of right maxilla with soft tissue density extending into the adjacent maxillary sinus [Figure 1]b and [Figure 1]c. Cyst enucleation was done along with extraction of right molars, premolars, and canine extraction. The histopathology report was suggestive of radicular cyst.
Figure 1: (a) Orthopantomogram suggestive of radiolucency in the right maxillary sinus region involving the roots of 13, 14, 15, and 16, (b and c) CT scan reveals soft tissue density involving the right maxillary alveolar process and sinus

Click here to view


The patient was on regular follow-up and he was asymptomatic for 4 months and then started a similar complaint on the upper left back tooth region. OPG was suggestive of bone loss between maxillary left bicuspids and CT scan gave an impression of ground-glass matrix in the lateral bony margins of the right maxillary sinus. Cone-beam CT suggested significant bone loss around the remaining teeth in the maxilla with reduced bone density of alveolar process and ground-glass appearance in the right maxilla [Figure 2]a and [Figure 2]b. The patient was advised for hematological investigations after conferring with the internal medicine department to rule out metabolic disorders such as Paget's disease and hyperparathyroidism, and the results were within normal limits.
Figure 2: Cone-beam computed tomography after 4 months of cyst enucleation reveals immature woven bone in the right lateral sinus wall (a) bone loss involving the alveolar process of remaining teeth and reduced bone density of the left maxillary sinus region (b), Cone-beam computed tomography after 1 year reveals progressive osteolysis (c) Histological examination showing chronic inflammation and vascular proliferation with congestion (d)

Click here to view


Later, the patient went elsewhere for taking alternate opinions regarding the disease and from there, they did extraction of left premolars and molars. Histopathology report of the soft tissue from the extracted socket region was inconclusive and they referred back the patient for biopsy from deeper tissue. After extracting the remaining teeth, the soft tissue and hard tissue specimens were sent for histopathological examination which was suggestive of benign lymphatic lesion favoring lymphangioma. Correlating the clinical, radiological, and histopathological findings with the Heffez criteria, the patient was diagnosed with vanishing bone disease [Figure 2]c and [Figure 2]d.[5]


  Discussion Top


According to the literature, only a small number of cases (about 200) have been reported, with only 51 of these involving the face. Despite the passage of two decades, the specific pathology of this disease remains unknown.[6] Similar to a hemangioma or lymphangioma, the pathological process involves the replacement of normal bone by an actively expanding but nonneoplastic vascular tissue.[7]

Massive bone loss is caused by rapidly proliferating neovascular tissue. The bone resorbs in the early stages of the lesion, and is replaced by hypervascular fibrous connective tissue and angiomatous tissue. Progressive bone disintegration leads to severe osteolysis in the late stages, with osseous tissue being replaced by fibrous tissue. Recent investigation suggests that cells of monocyte–macrophage lineage may play a role in pathogenesis. The trigger that causes this bone remodeling is unknown.[8]

Romer reported the first case of vanishing bone disease involving the jaws in a 31-year-old woman in 1924.[9] The mandible is most commonly affected, followed by the maxilla, with different degrees of involvement of contiguous components such as the hard palate, sphenoid bone, and zygomatic bone, according to Frederikson et al.[10]

The first signs of vanishing bone disease with maxillofacial involvement might be seen as mobile yet vital teeth with gingival bleeding. Other symptoms include hypoplasia, pain, malocclusion, and resorption of the afflicted alveolar and surrounding bone. Involvement of the temporomandibular joint by vanishing bone disease can be mistaken for temporomandibular dysfunction, and mandibular involvement may present with pathological fracture.[11] Involvement of jaws can also affect mastication, swallowing, speaking, and respiratory function, as well as cosmetic appearance.

The diagnosis of vanishing bone disease is based on thorough clinical examination, radiologic imaging studies, and histopathologic examination. Serum alkaline phosphatase levels were found to be elevated in some patients.[12]

Heffez et al.[5] suggested eight criteria (histopathologic and clinical) for definitive diagnosis of vanishing bone disease which help distinguish from other destructive bone disorders [Table 1].
Table 1: Heffez Criteria

Click here to view


The present case features eight out of the eight criteria put forth by Heffez et al.

Specimens extracted from radiolucent lesions in the early stages of the disease show a generic vascular proliferation mixed with fibrous connective tissue and a persistent inflammatory infiltration of lymphocytes and plasma cells. The strength of vascular proliferation varies, and it is characterized by thin-walled capillary or cavernous channels. The presence of osteoclastic response in nearby bone fragments is usually not noticeable. Tissue from the area of bone loss becomes more collagenized as the disease progresses.[13] LYVE-1, a receptor for the glycosaminoglycan hyaluronan, and podoplanin, a transmembrane glycoprotein identified by the antibody D2-40, are two extensively used molecular markers of lymphatic endothelial cells. These markers demonstrated that lymphatic vessels do not exist in normal bones, but they do exist in the medullary and cortical portions of GSD patients' bones.[14]

The differential diagnosis of the disease includes hereditary multicentric osteolysis, osteolysis with nephropathy, osteomyelitis, rheumatoid arthritis, osteolysis due to intraosseous malignancies, hyperparathyroidism, eosinophilic granuloma, and osteolysis due to diseases of the central nervous system, such as syringomyelia and tabes dorsalis. Aneurysmal bone cyst, extensive metastatic bone disease, and osteosarcoma are some of the lesions that resemble vanishing bone disease and can be confirmed with a biopsy.[2]

Clinicians face a difficult task in managing vanishing bone disease. Medical treatments with estrogen, calcium, Vitamin D, bisphosphonates, and calcitonin, as well as alpha 2B interferon, are some of the options. Resection of the lesion, bone grafting, and prosthetic implants are all surgical therapy options. The treatment's success rate is quite low. Low-dose radiation therapy is controversial and not widely used because of the risk of radiation-induced malignancies.[15]

When GSD affects the maxillofacial area, pain, loose teeth, fractures, and facial deformity may develop. Involvement of the spine or skull base can be associated with neurological complications. Involvement of the spine can also potentially result in chronic or acute pain or paralysis (paraplegia). Some medical references have reported an association with meningitis in such cases. Meningitis is inflammation of the membranes (meninges) covering the brain and spinal cord, usually due to infection.[16]

Reconstruction of the defect should be postponed until osteolysis dormancy has been established. This is because the disease has spread or recurred into the grafted segments in few cases.[15] On the other hand, a case was reported in which a free fibula was used to replace a mandibular deformity, and the patient was effectively treated with dental implants.[17] Pterygoid and zygoma implants could be a better option for this patient. Computer-designed alloplastic patient specific implants (PSIs) are another option and they offer higher accuracy and defect adaption, enhanced stability, more predictable outcomes, and better facial contour refinement.[18]


  Conclusion Top


“Vanishing bone disease,” also known as “Disappearing bone disease,” is an extremely rare bone illness with no proven etiopathogenesis. As these bones of the maxillofacial territory are frequently affected by this ailment, and because it is a rare cause of osteolysis in the maxillofacial skeleton, it is critical for maxillofacial surgeons to be aware of its occurrence as a rare cause of functional and cosmetic impairment in the maxillofacial skeleton.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Jackson JB. A boneless arm. Boston Med Surg J 1838;18:368-9.   Back to cited text no. 1
    
2.
Nikolaou VS, Chytas D, Korres D, Efstathopoulos N. Vanishing bone disease (Gorham-Stout syndrome): A review of a rare entity. World J Orthop 2014;5:694-8.   Back to cited text no. 2
    
3.
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.   Back to cited text no. 3
  [Full text]  
4.
Bruch-Gerharz D, Gerharz CD, Stege H, Krutmann J, Pohl M, Koester R, et al. Cutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: A novel clue to the pathogenesis of a rare syndrome. J Am Acad Dermatol 2007;56:S21-5.   Back to cited text no. 4
    
5.
Heffez L, Doku HC, Carter BL, Feeney JE. Perspectives on massive osteolysis. Report of a case and review of the literature. Oral Surg 1983;55:331-43.   Back to cited text no. 5
    
6.
Saify FY, Gosavi SR. Gorham's disease: A diagnostic challenge. J Oral Maxillofac Pathol 2014;18:411-4.   Back to cited text no. 6
[PUBMED]  [Full text]  
7.
Dickson GR, Hamilton A, Hayes D, Carr KE, Davis R, Mollan RA. An investigation of vanishing bone disease. Bone 1990;11:205-10.   Back to cited text no. 7
    
8.
Devlin RD, Bone HG 3rd, 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. 8
    
9.
Frederikson NL, Wesley RK, Sciubba JJ, Helfrick J. Massive osteolysis of the maxillofacial skeleton: A clinical, radiographic, histologic, and ultrastructural study. Oral Surg Oral Med Oral Pathol 1983;55:470-80.   Back to cited text no. 9
    
10.
Benhalima H, Lazrak A, Boulaich M, Mezahi M, Ourlai A, Kzadri M, et al. Massive osteolysis of the maxillo-facial bones: Case report and review of the literature. Odontostomatol Trop 2001;24:35-40.   Back to cited text no. 10
    
11.
Ohya T, Shibata S, Takeda Y. Massive osteolysis of the maxillofacial bones: Report of two cases. Oral Surg Oral Med Oral Pathol 1990;70:698-703.   Back to cited text no. 11
    
12.
Patel DV. Gorham's disease or Massive osteolysis. Clin Med Res 2005;3:65-74.   Back to cited text no. 12
    
13.
Neville BW, Damm DD, Allen CM, Chi AC. Oral and maxillofacial pathology. 2nd edition. University of Michigan. Elsevier Health Sciences; 2015.   Back to cited text no. 13
    
14.
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 Br 1999;81:501-6.   Back to cited text no. 14
    
15.
Ricalde P, Ord RA, Sun CC. Vanishing bone disease in a five year old: Report of a case and review of the literature. Int J Oral Maxillofac Surg 2003;32:222-6.   Back to cited text no. 15
    
16.
Lala S, Mulliken JB, Alomari AI, Fishman SJ, Kozakewich HP, Chaudry G. Gorham-Stout disease and generalized lymphatic anomaly-clinical, radiologic, and histologic differentiation. Skeletal Radiol 2013;42:917-24.   Back to cited text no. 16
    
17.
Zhong LP, Zheng JW, Zhang WL, Zhang SY, Zhu HG, Ye WM, et al. Multicentric Gorham's disease in the oral and maxillofacial region: Report of a case and review of literature. J Oral Maxillofac Surg 2008;66:1073-6.   Back to cited text no. 17
    
18.
Ali SA, Karthigeyan S, Deivanai M, Kumar A. Implant rehabilitation for atrophic maxilla: A review. J Indian Prosthodont Soc 2014;14:196-207.  Back to cited text no. 18
    


    Figures

  [Figure 1], [Figure 2]
 
 
    Tables

  [Table 1]



 

Top
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
   Abstract
  Introduction
  Case Report
  Discussion
  Conclusion
   References
   Article Figures
   Article Tables

 Article Access Statistics
    Viewed403    
    Printed16    
    Emailed0    
    PDF Downloaded29    
    Comments [Add]    

Recommend this journal