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Introduction Casereport Clinicalrelevance Abstract Gorham’sdisease:acasereportandliteraturereview

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C A S E R E P O R T

Gorham’s disease: a case report and literature review

R.M. Patel1, D. Ward2& N. Moran3

1King’s College Dental Institute, Guy’s Hospital, London

2Newcastle Dental Hospital, Newcastle, UK

3Prince Charles Hospital, Merthyr Tydfil, Wales, UK

Abstract

Background: Gorham’s disease is an extremely rare disorder of unknown aetiology. The disease is characterised by spontaneous and progressive osteolysis of one or more skeletal bones. Occurrence in the maxillofacial region is rare with fewer than 40 reported cases affecting the facial and jawbones.

Case report: A 4-year-old child was admitted to a district general hospital with a 7-day history of fever, sore throat, cough and pain in the left face and ear. Three months previously the patient had presented to a local dental hospital complaining of ‘tooth pain’. There was tenderness on examination of the temporomandibular joints and cervical spine, and marked trismus.

The teeth were very mobile with extensive gingivitis present. The child was referred to Great Ormond Street Hospital for Sick Children where he received cytotoxic therapy. The patient deteriorated and succumbed to the disease at 6 years of age.

Discussion: Prognosis of the disease is dependent on which structures are involved. Mandibular involvement is considered high-risk. The presenta- tion of generalised tooth pain and mobility in a child should raise the sus- picion of a systemic disorder affecting the jaws. Gorham’s disease is one such condition to consider.

Key words:

bone, mandible, radiology

Correspondence to:

Mr RM Patel 172 Beverley Drive Edgware Middlesex HA8 5ND UK

Tel.:+44 (0)20 7188 4939 email: rajiv.m.patel@kcl.ac.uk Accepted: 1 August 2008

doi:10.1111/j.1752-248X.2008.00028.x

Clinical relevance

This case report demonstrates how a child with oral and facial symptoms combined with other systemic signs may present to an oral and maxillofacial surgery department. A systemic disease was not immediately suspected despite generalised tooth pain and mobility on presentation. It is intended that this case will high- light to oral surgeons, dentists and medical profession- als alike that generalised tooth pain and mobility in a young child should raise the suspicion of a systemic disorder and that the disease described here is one such condition to consider.

Introduction

Gorham’s disease or vanishing bone disease is an extremely rare disorder of unknown aetiology. The

disease is characterised by spontaneous and progressive osteolysis of one or more skeletal bones. Progressive bony resorption occurs, being replaced with fibrovas- cular connective tissue.

Occurrence in the maxillofacial region is rare with fewer than 40 reported cases affecting the facial and jawbones. Disease of the jaws may manifest as pain, deformity, tooth mobility and malocclusion1.

In this report, a case of Gorham’s disease affecting several bones, including the mandible is presented.

Case report

A 4-year-old child was admitted to a district general hospital with regard to a 7-day history of fever, sore throat, cough and pain in the left face and ear. He also complained of neck pain and stiffness and had vomited once the day before. He had presented to his general

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medical practitioner 2 weeks previously complaining of a cough. A 5-day course of a cephalosporin had not improved the symptoms.

His past medical history revealed that he had suffered from recurrent left-sided ear infections for 2 years.

Grommets had been inserted 1 year previously. These had been removed 5 weeks before admission because of bleeding and discharge. Each anaesthetic was recorded as a difficult intubation because of severe neck stiffness. He had suffered from recurrent left-sided facial and neck pain for 2 years, each episode being accompanied by dysphagia and pain on chewing.

Three months previously the patient had presented to a local dental hospital complaining of ‘tooth pain’. A dental panoramic tomogram was reported at that time as normal by the examining clinicians and the child was diagnosed as ‘teething’.

The child was a normal delivery at 38 weeks. His height and weight were below the third percentile and his speech was delayed until his third year.

On examination, he exhibited micrognathia with asymmetry to the left. His ears were turned forwards.

There were no skin lesions, hepatosplenomegaly or cervical lymphadenopathy. There was extreme tender- ness on examination of the temporomandibular joints and cervical spine, and marked trismus. Oral examina- tion showed that all deciduous teeth were present and caries free. However, the teeth were very mobile with extensive gingivitis present and oropharyngeal can- didiasis was evident. There was a high arched palate with no clefting. His temperature on admission was 37.6°C.

Haematological investigation demonstrated the following:

A mild anaemia was reported. Platelets, white cells and neutrophils were elevated. C-reactive protein was significantly raised at 120.9 mg/L (normal= 0.08–8.0).

Autoantibodies were negative. Other investigations were returned as normal (liver enzymes, urea and electrolytes, bone profile, hormonal assays and urine VMA).

Radiological investigations demonstrated multiple areas of rarefaction in the skull, pelvis, cervical spine, wrists, scapula and the mandible. A bone scan showed increased activity in the above areas. The dental pan- oramic tomogram radiograph (Fig. 1) revealed genera- lised osteolytic changes in the bone with a pencil-thin cortex and marked rarefaction in the posterior parts of the mandible.

A differential diagnosis included; histiocytosis X, Still’s disease, fibrous dysplasia and Gorham’s disease.

Other differentials that may be considered are diseases of endocrine function (e.g. hyperparathyroidism),

infectious diseases (e.g. osteomyelitis) and inflam- matory conditions (e.g. rheumatoid arthritis). A bone biopsy from the iliac crest showed macroscopically abnormal bone. A biopsy of the mandible was taken in this case. Histopathology was considered as consistent with the haemangiomatosis seen in Gorham’s disease.

The positive biopsy result combined with the osteolytic radiographic pattern, clinical signs, lack of involvement of other organs and the absence of other aetiological factors (neoplastic, immunological, metabolic, heredi- tary or infectious) helped confirm the diagnosis.

The child was referred to Great Ormond Street Hos- pital for Sick Children where he received cytotoxic therapy and morphine to reduce neck and general bone pain. Oral hygiene measures were introduced involving chlorhexidine 0.2%, but despite this, the tooth mobility worsened.

The patient was treated with six further cycles of cytotoxics over a 2-year period. During this time, the patient fell and fractured the left femur, which was treated successfully. The patient responded well to treatment initially and was on the 50th percentile growth chart and attended a normal school. Eventu- ally, the patient died at 6 years of age following destruction of the cervical vertebrae and injury to the spinal cord.

Discussion

Gorham’s disease has a number of synonyms including lymphangiomatosis, massive osteolysis, phantom bone disease and vanishing bone disease. The first case was reported by Jackson (1838) and described the sponta- neous resorption of a humerus and led him to title his work ‘A boneless arm’2. Further cases continued to be reported until Gorham and Stout first described it as a

Figure 1 ‘Moth eaten’ radiolucent appearance of the mandible.

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pathological entity in 1954; they identified the presence of lymphangiomatous vessel proliferation3. Since then, less than 160 cases have been reported in the literature. The prognosis of the disease is highly variable and unpredictable, causing anything from a minor dis- ability to death which can occur in up to 16% of cases. It may affect single or less commonly multiple sites4.

The disease can affect any part of the skeleton and thus far, there have been fewer than 40 reported cases affecting the maxillofacial bones, most often the man- dible. Frederiksen et al.5found that all reported cases of the disease in the maxillofacial region initially involved the mandible, some of which later progressed to maxilla and skull. Of the other bones in the skeleton, the pelvis, humeral head and humeral shaft appear most commonly involved6.

Although the aetiology of the disease is still unknown, it is thought that an increased osteoclast activity, coupled with proliferation of blood and lym- phatic vessels, may play an important role in disease pathogenesis7–9. Gorham and Stout3 proposed that proliferating capillaries from the haversian system caused an increased vascularity, which increased the surrounding oxygen tension, changed the pH of the tissue and resulted in lysis of the tissue. Increased bone resorption and osteoclast activity may be influenced by interleukin-610.

The osteolytic process is often painless allowing patients to continue with daily activities while bone destruction progresses, making the patient more sus- ceptible to pathological fractures11. Onset of the disease is usually during childhood and early adulthood.

The disease is notoriously difficult to diagnose and is often diagnosed through a process of elimination of other osteolytic disorders. Heffez et al.12produced a set a diagnostic criteria to aid diagnosis:

1. a positive biopsy

2. absence of cellular atypia

3. minimal/no osteoblastic response and the absence of dystrophic calcification

4. evidence of local, progressive osseous resorption 5. non-expansile*, non ulcerative lesion

6. absence of visceral involvement 7. osteolytic radiographic pattern

8. negative hereditary, metabolic, neoplastic, immu- nologic or infectious aetiology.

*a number of cases presenting in the maxillofacial region present with an initial swelling.

In a review by Anavi et al.13, the mean duration of symptoms before diagnosis was 6.4 years with the initial histopathologic diagnosis inaccurate in 45% of cases which highlights the difficulty faced by clinicians and pathologists when attempting to diagnose this

condition. It is important to differentiate the disease from osteolysis caused by infection or inflammation (e.g. osteomyelitis or rheumatoid arthritis), endocrine disorders (e.g. hyperparathyroidism) and tumours (e.g.

angiosarcoma, histiocytosis X)14.

Radiographic features of Gorham’s disease include a gradual coalescence of scattered radiolucencies over time, disappearance of lamina dura, porosis of trabecular structure and atrophy of bony contour15,16. However, radiographic presentation in the maxillofa- cial region, especially the teeth bearing regions of the mandible and maxilla, can strongly mimic the radio- graphic appearance of periodontal disease17 despite adequate plaque control and a lack of gingival inflam- mation. Even though this presentation may occur in less than 25% of patients, it is an opportunity to diag- nose the disease at an earlier stage, especially in the child patient in which periodontal pocket formation is very rare. Mandibular teeth mobility has been described as an early sign in the majority of patients with Gorham’s disease of the jaws5,6,17,18. Radiographic evidence of bone loss, coupled with tooth mobility, may suggest a form of periodontal disease. However, the other clinical features of periodontal disease will not be present: oral hygiene will be satisfactory (with low plaque index scores), no signs of inflammation of the gingival tissues and no loss of attachment or presence of periodontal pockets17. Other symptoms may include pain, malocclusion, recurrent infection and involvement of the middle and inner ear.

Prognosis of the disease is dependent on which structures are involved. Lesions within the vertebral column and rib cage can potentially be fatal. Man- dibular involvement is considered high-risk disease location as the disease can progress to involve the maxilla, skull and spine17.

Currently, there is no recognised effective treatment for this disease. Surgical, radiation and medical thera- pies have been used with variable outcomes. Resection and bone grafting have always resulted in recurrences and failures18. Radiation therapy can be quite effective but its complications should be very carefully consid- ered, especially in the child19. Several medical therapies have been tested often with poor outcomes. More recently, first generation biphosphonates have been reported to successfully arrest the course of osteolysis14. Zoledronic acid, a nitrogen-containing high-potency bisphosphonate, has been reported to be more potent and effective than the first generation bisphospho- nates, and to have antiangiogenic properties in addi- tion to osteoclast inhibition20. It has been proposed that this therapy could potentially be used in managing the active phase of the disease and could be offered as an

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alternative to radiotherapy. However, recently, it has been established that this mode of treatment is not without complications as bisphosphonates adminis- tered intravenously and orally have both been associ- ated with osteonecrosis of the jaws21.

Our case demonstrates how a patient with early signs of this rare condition may present to the dental surgeon. It also emphasises the difficulty of early diag- nosis of the disease. The dental panoramic tomogram and lateral oblique views in our case show loss of den- toalveolar bone and a moth-eaten appearance to the supporting bone (Figs 1 & 2). Alveolar bone loss leads to generalised tooth mobility, which when coupled with signs of periodontal disease in a child should raise suspicions of systemic disease affecting the tooth sup- porting structures. Undoubtedly, this is easier to see in hindsight with the diagnosis known. Nevertheless, the overall clinical picture would not support a common dental disorder such as periodontal disease.

The presentation of generalised tooth pain and mobility in a child should raise the suspicion of a sys- temic disorder affecting the jaws. Gorham’s disease is one such condition to consider.

References

1. Schiel H, Prien J. Seven year follow up of vanishing bone disease in a 14-year old girl. Head Neck 1993;15:352–6.

2. Jackson JBS. A boneless arm. Boster Med Surg J 1938;18:368–9.

3. Gorham LW, Stout AP. Massive osteolysis acute spontaneous absorption of bone, phantom bone,

disappearing bone its relation to haemangiomatosis.

J Bone Joint Surg 1955;37A:985–1004.

4. Tauro B. Multicentric Gorham’s disease. J Bone Joint Surg Br 1992;74-B:928–9.

5. Friederiksen 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.

6. Holroyd I, Dillon M, Roberts GJ, Phil M. Gorham’s disease: a case report (including dental presentation) of vanishing bone disease. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000;89:125–9.

7. Hirayma T, Sabokbar A, Itonaga I, Watt-Smith S, Athanasou NA. Cellular and humoral mechanisms of osteoclasts formation and bone resorption in Gorham–Stout disease. J Pathol 2001;195:624–30.

8. Choma ND, Biscotti CV, Bauer TW, Mehta AC, Licata AA. Gorham’s syndrome: a case report and review of the literature. Am J Med 1981;83:1151–6.

9. Aviv RI, McHugh K, Hunt J. Angiomatosis of the bone and soft tissues: a spectrum of disease from diffuse lymphangiomatosis to vanishing bone disease in young patient. Clin Radiol 2001;56:184–90.

10. Devlin RD, Bone HG, Roodman GD. Interleukin-6: a potential mediator of the massive osteolysis in a patient with Gorham–Stout disease. J Clin Endocrinol Metab 1996;81:1893–7.

11. Ricalde P, Ord RA, Sun CCJ. 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.

12. Heffez L, Doku HC, Carter BL. Perspectives on massive osteolysis: report of a case and review of the literature.

Oral Surg Oral Med Oral Pathol 1983;55:331.

Figure 2 (A) Osteolytic changes in femur. (B) Pathogical fracture of femur.

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13. Anavi Y, Sabes WR, Mintz S. Gorham’s disease affecting the maxillofacial skeleton. Head Neck 1989;11:550.

14. Tsang W, Tong A, Chow L, Ng I. Massive Osteolysis (Gorham disease) of the maxillofacial skeleton. J Oral Maxillofac Surg 2004;62:225–30.

15. Johnson PM, McClure JG. Observations on massive osteolysis: a review of the literature and report of a case.

J Radiol 1958;71:28.

16. Kriens O. Progressive maxillofacial osteolysis: a case report. Dent Maxillofac Radiol 1973;2:73.

17. Mignogna MD, Fedele S, Lo Russo L, Lanza A, Marenzi G, Sammartino G. Gorham’s diaease of the mandible mimicking periodontal disease on radiograph. J Clin Periodontol 2005;32:1022–6.

18. Motamedi MHK, Homauni SM, Behnia H. Massive osteolysis of the mandible: a case report. J Oral Maxillofac Surg 2003;61:957–63.

19. Mignogna MD, Fedele S, Lo Russo L, Ciccarelli R.

Treatment of Gorham’s disease with zoledronic acid.

Oral Oncol 2005;41:747–50.

20. Croucher P, Jagdev S, Coleman R. The anti-tumour potential of zoledronic acid. Breast 2003;12:

530–6.

21. Marx RE, Cillo JE, Ulloa JJ. Oral bisphosphonate- induced osteonecrosis: risk factors, prediction of risk using serum CTX testing, prevention, and treatment.

J Oral Maxillofac Surg 2007;65:2397–410.

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