|Year : 2016 | Volume
| Issue : 2 | Page : 180-184
Gorham's disease of mandible - a rare case presentation in pediatric patient
Santanu Mukhopadhyay1, Abira Chattopadhyay2, Raja Bhattacharya3, Ushapati Roy4
1 Department of Pedodontics and Preventive Dentistry, Dr. R Ahmed Dental College and Hospital, Kolkata, West Bengal, India
2 Department of Oral and Maxillofacial Surgery, Burdwan Dental College and Hospital, Burdwan, West Bengal, India
3 Department of Pedodontics and Preventive Dentistry, Burdwan Dental College and Hospital, Burdwan, West Bengal, India
4 Department of Oral and Maxillofacial Pathology, Burdwan Dental College and Hospital, Burdwan, West Bengal, India
|Date of Web Publication||14-Apr-2016|
Dr. Santanu Mukhopadhyay
Department of Pedodontics and Preventive Dentistry, Dr. R Ahmed Dental College and Hospital, Kolkata-700014, West Bengal
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Gorham's disease or vanishing bone disease is a rare, progressive musculoskeletal disorder characterized by resorption of bone matrix, and later replaced by fibrous connective tissue. The disease has no specific predilection for age, gender, or race. The most common sites of involvement are the shoulder and pelvic bones. To date, nearly 50 cases of Gorham's disease with maxillofacial involvement have been reported in the literature. The etiology of Gorham's disease is not known, clinical features are variable, and prognosis is generally good unless vital structures are involved. Due to the rarity of the condition, no definite treatment protocol exists for this disorder. Here, we described a pediatric case of Gorham's disease with mandibular involvement.
Keywords: Children, Gorham′s disease, mandible, osteolysis, vanishing bone disease
|How to cite this article:|
Mukhopadhyay S, Chattopadhyay A, Bhattacharya R, Roy U. Gorham's disease of mandible - a rare case presentation in pediatric patient. J Indian Soc Pedod Prev Dent 2016;34:180-4
|How to cite this URL:|
Mukhopadhyay S, Chattopadhyay A, Bhattacharya R, Roy U. Gorham's disease of mandible - a rare case presentation in pediatric patient. J Indian Soc Pedod Prev Dent [serial online] 2016 [cited 2021 Mar 9];34:180-4. Available from: https://www.jisppd.com/text.asp?2016/34/2/180/180450
| Introduction|| |
Gorham's disease or vanishing bone disease is a rare, nonhereditary disorder with variable clinical features, unknown etiology, and unpredictable prognosis. The condition is characterized by proliferation of vascular channels resulting in destruction and resorption of bone matrix, and at a later stage replaced by fibrous connective tissue. ,, The exact etiology is not known. Mechanical force or trauma, acidic environment, local hypoxia, and hydrolytic enzymes are believed to be responsible for the bone destruction. , The disorder is more common in young adults, with no recognized gender, race, or geographic predilection.
Gorham's disease, also known as Gorham-Stout syndrome, Morbus Gorham-Stout disease, phantom bone disease, massive osteolysis, and vanishing bone disease is infrequent; with approximately 200 cases are reported to date. It was first reported by Jackson in 1838, and later the condition was defined by Gorham and Stout in 1955. , Since the first reported case of jaw involvement in 1924, 43 cases of Gorham's disease involving maxillofacial region have been published. 
This benign, but the locally aggressive disease may spread into adjacent soft tissues and contiguous bones. The bones commonly involved are shoulders, pelvis, clavicle, vertebra, and scapula, with mandible being the most frequently affected jaw bone. Here, we described a case of a 6-year-old girl with Gorham's disease affecting the mandible.
| Case Report|| |
A 6-year-old girl presented with a chief complaint of mobility of teeth and gingival bleeding, in January 2012. The patient also gave a history of dull, intermittent pain, which increased on chewing of food since last 3 years. The child was born of a postterm normal delivery. The parents gave a negative history of consanguineous marriage. Medical and family histories were not significant. There was no history of trauma, and developmental milestones appeared normal. The extraoral examination did not reveal any abnormality. On intraoral examination, the erythematous hyperplastic gingiva was seen in the mandibular anterior region [Figure 1]. The mandibular arch showed a mixed dentition with Grade III mobility. Gingival bleeding on probing was also observed. The maxillary arch had a primary dentition which appeared normal. A panoramic radiograph was recommended. The radiographic examination demonstrated generalized horizontal bone loss and resorption of the body of the mandible. The coronoid process could not be appreciated bilaterally while condyle appears to be thinned out [Figure 2]. Based on clinical and radiographic investigations, a provisional diagnosis of aggressive periodontitis was made. Oral prophylaxis was performed, and oral hygiene instructions were given.
|Figure 1: Intraoral photograph showing gingival overgrowth and crowding in the lower arch|
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|Figure 2: Panoramic radiograph showing resorption of the body of the mandible and generalized thinning of the mandible|
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The patient returned to the department in October 2012 with a complaint of facial asymmetry and mandibular deviation to the right side on mouth opening. Intraoral examination revealed malocclusion, atrophy of mandibular alveolar ridge and bleeding on probing. Hematological investigations of the patient showed high alkaline phosphatase level (226 IU/L). Whole body bone scan was carried out with 370 mCi of Tc-99 m methylene diphosphonate. Static views obtained after 3 h showed normal bone to soft tissue contrast by the skeleton. The bone scan also revealed normal physiological uptake of tracer by the entire skeleton [Figure 3]. Plain X-rays of chest, pelvis, hip-joint, and thoracic spine were normal. A three dimensional computed tomography (CT) scan also corroborated X-ray findings and demonstrated total resorption of the body of the mandible except for a thin margin along the lower border. Ramus of the mandible is seen bilaterally and is intact [Figure 4]. An incisional biopsy was taken from the lower right premolar area [Figure 5]. Histopathology of gingival overgrowth showed numerous plasma cell and lymphocyte infiltration, acanthosis, and pseudo epithelial hyperplasia [Figure 6]. Based on investigation reports, we arrived at a diagnosis of Gorham's disease. A multi-disciplinary approach involving surgical resection of the mandible and bone grafting was recommended which the child's parents refused. A regular check-up of the patient was recommended. A panoramic radiograph taken in November 2014 showed no further progression of the lesion. The osteolytic process appeared to have arrested with eventual stabilization of the mandible [Figure 7].
|Figure 3: Tc-99 m methylene diphosphonate bone scan revealed normal physiological uptake of tracer by the entire skeleton|
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|Figure 4: Three-dimensional computed tomography image showing resorption of the body of the mandible|
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|Figure 5: Incisional biopsy sample was taken from the right premolar region|
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|Figure 6: Photomicrograph of H and E stained section (×40) of gingival tissue showing acanthosis and pseudo epithelial hyperplasia|
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|Figure 7: Follow-up radiograph taken in November 2014 showed thin radiopaque mandibular border|
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The study was approved by the ethics committee of our institution. Written informed consent was obtained from the parents.
| Discussion|| |
Gorham's disease is usually monostotic, although it can secondarily affect adjacent bones and soft tissues. Mandible is considered as a high-risk disease location since the disease may spread to the base of the skull, spine, and the thorax.  Therefore, identifying the early signs of maxillofacial involvement is important to prevent morbidity and mortality. Clinical features of Gorham's disease affecting the maxillofacial region include tooth mobility, gingival hemorrhage, bone loss, facial deformity, and malocclusion. Our patient also had similar features.
The condition affects the child, as well as adults, but is more common in the second and third decade of life with a mean age 33 years.  Maxillofacial involvement of Gorham's disease is rare with fewer than fifty cases were reported to date. Our case, a 6-year-old female patient with Gorham's disease, is uncommon as only four other cases involving the mandible were reported in children younger than 10 years of age. 
Radiographic features of Gorham's disease can be divided into two stages.  The initial lesion demonstrates radiolucent foci in the intramedullary and subcortical areas. In the second phase, dissolution and disappearance of a part of affected bone occur. There is no compensatory osteoblastic activity or periosteal reaction visible. Kriens investigated radiographic features of Gorham's disease involving the mandible and observed that the disappearance of cortical bone and lamina dura, porosis of trabecular structure and atrophy of bony contour are significant features of mandibular osteolysis.  CT scan is helpful to know the extent of the lesion. In our patient, radiographic appearance as shown on plain X-rays of the skull, chest, and long bones ruled out the involvement of other bones. Panoramic and CT scan demonstrated total resorption of the body of the mandible except for a thin margin along the lower border. Tc-99 m bone scintigraphy in the present case showed no similar osteolytic lesion in any other parts of the body. Blood investigation reports of Gorham's disease are usually within a normal limit with the exception of a slight elevation of alkaline phosphatase level. Our patient also had an increased alkaline phosphatase level.
Mandibular involvement is often misdiagnosed as periodontitis, particularly in the early stages of the disorder. The other lesions that should be ruled out before arriving at a diagnosis of Gorham's disease include osteomyelitis, infectious rheumatoid arthritis, aneurysmal bone cyst, hereditary osteolysis, skeletal angiomatosis hyperparathyroidism, osteosarcoma, and eosinophilic granuloma. ,,,, Heffez et al.  listed eight features for a definitive diagnosis of Gorham's disease:
- Positive biopsy in terms of angiomatous tissue presence.
- Absence of cellular atypia.
- Minimal or no osteoclastic response and absence of dystrophic calcifications.
- Evidence of local bone progressive resorption.
- Inexpensive, nonulcerative lesion.
- Absence of visceral involvement.
- Osteolytic radiographic pattern.
- Negative hereditary, metabolic, neoplastic, immunologic, and infectious etiology.
A majority of these criteria were expressed in our patient.
No definite treatment exists for this rare disorder. Medical management consists of anti-osteoclastic drugs (bisphosphonates), alpha 2b-interferon, calcitonin, calcium, oestrogen, fluoride, Vitamin D, and chemotherapeutic agents such as cisplatin, actinomycin D, and etoposide. Surgical options include resection of the lesion and reconstruction using the bone graft or prosthesis. Surgical repair is undertaken when the lesion is monostotic, and the vital structures are not involved. Low-dose radiotherapy appears to arrest endothelial cell proliferation, and thereby limiting the disease progression. ,, However, benefits of medical treatment has not been established, surgical bone grafts often undergo osteolysis, and radiotherapy is not indicated in young children because of the potential for postirradiation sarcoma, and growth retardation. ,,,
As benefits of current therapeutic interventions are experimental and documented only in case reports, treatments in many cases of Gorham's disease are palliative and limited to symptom management.  Moreover, in some cases the course of the disease is arrested without any treatment. ,, In our patient, a multi-disciplinary approach involving surgical resection of the mandible and bone grafting were recommended as the disease was monocentric. However, the child's parents refused to accept surgery as a mode of treatment. In addition, stabilization of the osteolytic process and absence of serious maxillofacial complications had restricted the patient to palliative care.
This progressive osteolytic process in many cases results in functional disability which strain family's emotional and financial resources. Unfortunately, all cases of Gorham's disease are not managed by palliative treatment. Duffy et al. reported that 17% of patients with this disease involving the ribs, shoulders or upper spine developed chylothorax.  The mortality rate in these patients with chylothorax is as high as 64% without surgical correction. However, the prognosis of the disease is generally good unless vital structures are involved. Chylothorax due to the involvement of ribs is associated with high mortality rate.
| Conclusion|| |
Gorham's disease is a rare osteolytic lesion with variable clinical features and unknown etiology. The disease is usually monocentric, but can involve multiple bones. Mandible is a high-risk disease location because of its proximity to the brain. Due to the finite number of cases reported in the literature no standard therapy is available. The pediatric dentist may be the first person to see these patients. Proper diagnosis of the disease by the pediatric dentist can avoid further untoward complications.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]