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Table of Contents
CASE REPORT
Year : 2017  |  Volume : 14  |  Issue : 4  |  Page : 218-220

Vanishing bone disease of the face: A rare case of massive osteolysis


1 Department of Otorhinolaryngology, IMS and SUM Hospital, Siksha ‘O’ Anusandhan University, Bhubaneswar, India
2 Department of Pathology, Apollo Hospital, Bhubaneswar, India
3 Department of Maxillofacial Surgery, VIMSAR, Burla, Odisha, India
4 Directorate of Medical Research, IMS and SUM Hospital, Siksha ‘O’ Anusandhan University, Bhubaneswar, India

Date of Web Publication5-Feb-2018

Correspondence Address:
Santosh Kumar Swain
Department of Otorhinolaryngology, IMS and SUM Hospital, Siksha ‘O’ Anusandhan University, K8, Kalinga Nagar, Bhubaneswar - 751 003, Odisha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/am.am_22_17

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  Abstract 

Vanishing bone disease (VBD) is an uncommon clinical entity with unknown etiology. This disease affects individual irrespective of age or sex. It can affect any bone of the body including the mandibular region of the face. The osseous tissue is progressively replaced by angiomatic tissue and finally by fibrous tissue. It is usually seen in the second and third decades of the life. It is often difficult to diagnose and the treatment is controversial. Here, we report a case of aggressive VBD in the mandibular region which was treated with radiotherapy and zoledronic acid. Because of its rarity, we described this clinical scenario affecting cosmesis of the patient with pain in face-and-neck area.

Keywords: Bone resorption, face, mandible, vanishing bone disease


How to cite this article:
Swain SK, Baisakh MR, Nayak C, Sahu MC. Vanishing bone disease of the face: A rare case of massive osteolysis. Apollo Med 2017;14:218-20

How to cite this URL:
Swain SK, Baisakh MR, Nayak C, Sahu MC. Vanishing bone disease of the face: A rare case of massive osteolysis. Apollo Med [serial online] 2017 [cited 2019 Jan 19];14:218-20. Available from: http://www.apollomedicine.org/text.asp?2017/14/4/218/224729


  Introduction Top


Vanishing bone disease (VBD) is an extremely rare clinical condition of unknown etiology. It was first described by Jackson in 1838 in an 18-year-old boy where the humerus bone slowly and completely resorbed after a fracture.[1] It has several names such as Gorham's disease, massive spontaneous or progressive osteolysis, acute essential bone resorption, disappearing phantom, or VBD.[2] VBD or Gorham–Stout syndrome presents as idiopathic osteolysis of a bone or close contiguous area. The cause of the disease is unknown. It is an extremely rare disease and difficult to diagnosis. It affects individuals of any age or sex and its treatment is controversial. According to previous study it was reported on histological changes in a patient with massive osteolysis where the affected bone showed an increase in vascularity.[3] Gorham and Stout established the osteolysis accompanying with extensive endothelial proliferation of vessels in the bone.[3] GSD can be seen in any age group ranging from 7 months to 83 years, but commonly diagnosed in young adults and has no clear sex predilection or inheritance pattern.[4] GSD can affect any bony part of the body but commonly involve maxilla, clavicle, mandible, ribs, cervical vertebra, pelvis, and femur. The bone involvement can be single or in multiple contiguous bones.


  Case Report Top


A 38-year-old lady presented with the right side facial hypoplasia [Figure 1] with neck pain and stiffness for 2 years. The pain was so severe, affecting the normal activity including drinking and eating. Initial radiological investigations showed grossly osteopenic mandibular bone in the same side of the face. Radiological tests revealed normal bones all over the body. Routine blood tests were within normal limits. Ultrasound-guided fine-needle aspiration cytology of the hypoplastic area was inconclusive. After 1 month in the second stage, biopsy was planned with exploration at the mandibular area from bony remnant revealed predominant intertrabecular fibrosis in a background of normal showing cancellous bone and foci of spindle-shaped cells with proliferation of fibroblasts. Histopathology report showed no definite diagnosis for this patient. After 3 months, computed tomography (CT) scan again done showed destructive lesion at the right side of the facial bone with osteolytic process [Figure 2]. In the last 3–4 years, the patient had not much functional deficits, although there had been osteolysis of the mandible. Repeat biopsy done which revealed osteoclastic resorption of bone, compatible with massive osteolysis [Figure 3]. The overall clinical pictures, radiological features, and histopathological findings are in favor of VBD. Treatment options were discussed with patients and patient relatives, and they refused for any surgical intervention. In view of massive bone destruction and involving surround soft tissue, the patient referred to radiation oncology. She received a total dose of 45 Gy of radiation to affected area, which arrested to progression of the disease progress. Thereafter, the patient was administered (intravenous) with zoledronic acid (4 mg) once every 2 months for 24 months. She was also supplemented with Vitamin D and calcium.
Figure 1: Patient of vanishing bone disease showing right side hypoplastic mandibular area

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Figure 2: Computed tomography scan showing vanishing bone disease in the mandible. (a) Reconstructed view of skull, (b) Coronal cut of skull

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Figure 3: Revealing vascular channels replacing the bone (H and E, ×100)

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  Discussion Top


VBD is also known as Gorham–Stout disease or Phantom bone disease. It is a rare idiopathic disease characterized by proliferation of endothelial-lined vessels in the bone and replacement of bone by fibrovascular tissue.[5] The exact etiology and the nature of the disease remain controversial. In the pathogenesis, the replacement of normal bone is replaced by an aggressive, expanding, and nonneoplastic vascular tissue which is similar to hemangioma or lymphangioma. This proliferative neovascularization causes massive osteolysis. In the early stage of the disease, there will be resorption of bone and is replaced by vascularized fibrous connective tissue and also angiomatous tissue. Histopathologically, the affected bones show a nonmalignant hyperplasia of thin-walled vessels. The proliferative vascular tissue may be capillary, cavernous, or sinusoidal. In the late stage of the disease, there is progressive dissolution of the bone, causing massive osteolysis and bony part is replaced by fibrous tissue. The cause behind this stimulus which generates this change is still unknown.[6] The clinical course of VBD is unpredictable. In some cases, the disease progresses slowly whereas in others it progresses rapidly and leads to severe disability. VBD can be seen at any age ranging from 7 months to 83 years, but it is most commonly seen in children and young adults.[7] This disease does not show a clear gender predilection or any inheritance pattern.[7] Although it affects any bone in the body, it is common in maxilla, mandible, ribs, clavicle, cervical vertebrae, femur, and pelvis. The region of bone resorption can be seen in a single bone or multiple contiguous bones in the body. The clinical presentations of VBD depend on the sites of body affected. The most common symptom is localized pain, and other symptoms include weakness, swelling, and functional impairment of the affected part of the body. Often, the patient is asymptomatic until they suffer from bone fracture after minor trauma or spontaneously. The patient's affected thoracic involvement may lead to breathing difficulty. Sometimes the patients develop chylothorax and can result with respiratory distress and failure. Sometimes involvement of the vertebrae can lead to neurological deficits, deformity, paralysis, and even death.[3] Deaths can be occurred by the localized process of the disease in the costal arches, vertebrae, or mandible leading to respiratory complications with airway obstruction or by causing compression over the spinal medulla. Usually, the osteolysis stop spontaneously after long years of bony destruction, and at the end, the outcome is deformity and functional deficit. The routine blood tests are not much helpful for diagnosis of this disease as the reports are within normal limits. The level of serum alkaline phosphatase may be elevated.[4] The plain X-ray, radioisotope bone scans, CT scan, and magnetic resonance imaging (MRI) are often helpful. The radiographic and anatomopathological characteristics are pathognomonic features for the diagnosis of VBD.[8] The radiograph will show resorption and decreased vertical height of the mandible along with resorption toward the basal bone.[9] The radioisotope bone scan will show increased vascularity in the initial stage of the disease, whereas in subsequent stage lead to diminished or absent osseous tissue confirmed by decreased uptake of radioisotope. The T1-weighted spin-echo MRI shows low-signal intensity in the affected bone, whereas T2-weighted spin echo images show increased signal intensity. There is increased enhancement of the lesions which is seen after intravenous administration of gadolinium contrast. Through history taking, proper examination and appropriate investigations with radiographic studies are needed to rule out the common causes of osteolysis such as aneurismal bone cyst, extensive metastatic bone lesions due to carcinoma of the breast, and osteosarcoma are few diseases which often mimics VBD and confirmed by biopsy.[10] There are certain diagnostic criteria for confirmation of the diagnosis. These are positive biopsy, absence of cellular atypia, minimal or no osteoblastic response and absence of dystrophic calcification, evidence of progressive and local osseous resorption, nonulcerative and nonexpansile lesion, absence of visceral involvement, osteolytic radiographic pattern, negative hereditary, metabolic, neoplastic, immunologic, or infectious etiology.[2] The treatment of this disease depends on the extent of the organ affected. The treatment options are surgery, radiotherapy, and pharmacotherapy. The surgery is done to stabilize the affected part of the bone. Radiotherapy is ensured when the surgery is not possible. A total of 36–45 Gy given in 2 Gy fractions provides most benefits to the patients.[9] The drugs used in this disease as single agent or combination with another. The most commonly used drug is bisphosphonates and interferon-alpha 2b.[11] Other pharmaceutical agents used are vascular endothelial growth factor-A antibody, bevacizumab, propranolol, low molecular weight heparin, steroids, zoledronic acid, vitamins, and calcitonin.[12] Zoledronic acid has contribution toward partial bone regeneration.


  Conclusion Top


VBD is a rare clinical disorder characterized by the proliferation of endothelial-lined vessels in the bony tissue and the progressive destruction of bone. Despite advancement in medicine, the exact etiology of VBD is still unknown and the molecular mechanism leading to osteolysis remains unclear. The genetic basis of VBD has not been well defined and there are no satisfied treatments available. We reported a well-documented aggressive case of VBD in the mandibular region. Clinical outcome, in our case, was favorable after conservative treatment including radiotherapy and zoledronic acid. As the etiopathogenesis of VBD is not fully understood, further research is required for more effective treatment options. Clinician should be aware of this rare entity for giving correct diagnosis and treatment in time.

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;18:363.  Back to cited text no. 1
    
2.
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. 2
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3.
Dellinger MT, Garg N, Olsen BR. Viewpoints on vessels and vanishing bones in Gorham-Stout disease. Bone 2014;63:47-52.  Back to cited text no. 3
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4.
Patel DV. Gorham's disease or massive osteolysis. Clin Med Res 2005;3:65-74.  Back to cited text no. 4
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5.
Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. J Bone Joint Surg Am 1955;37-A: 985-1004.  Back to cited text no. 5
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6.
Kiran DN, Anupama A. Vanishing bone disease: A review. J Oral Maxillofac Surg 2011;69:199-203.  Back to cited text no. 6
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7.
Morimoto N, Ogiwara H, Miyazaki O, Kitamuara M, Nishina S, Nakazawa A, et al. Gorham-stout syndrome affecting the temporal bone with cerebrospinal fluid leakage. Int J Pediatr Otorhinolaryngol 2013;77:1596-600.  Back to cited text no. 7
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8.
Heyd R, Micke O, Surholt C, Berger B, Martini C, Füller J, et al. Radiation therapy for Gorham-Stout syndrome: Results of a national patterns-of-care study and literature review. Int J Radiat Oncol Biol Phys 2011;81:e179-85.  Back to cited text no. 8
    
9.
Ozbayrak M, Yilmaz MH, Kantarci F, Ozer H, Harmanci K, Babacan M, et al. Acase of an idiopathic massive osteolysis with skip lesions. Korean J Radiol 2013;14:946-50.  Back to cited text no. 9
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10.
Raghuveer HP, Jayalekshmy R. Gorham's massive osteolysis of the mandible – A progressive radiographic presentation. Dentomaxillofac Radiol 2009;38:292-5.  Back to cited text no. 10
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11.
Avelar RL, Martins VB, Antunes AA, de Oliveira Neto PJ, Andrade ES. Use of zoledronic acid in the treatment of Gorham's disease. Int J Pediatr Otorhinolaryngol 2010;74:319-22.  Back to cited text no. 11
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12.
Ruggieri P, Montalti M, Angelini A, Alberghini M, Mercuri M. Gorham-Stout disease: The experience of the Rizzoli institute and review of the literature. Skeletal Radiol 2011;40:1391-7.  Back to cited text no. 12
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  [Figure 1], [Figure 2], [Figure 3]



 

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