Spontaneous bone regeneration in a large haemophilic pseudotumour of mandible

Abstract

Pseudotumours of haemophilia (PTH) are locally expansile destructive haematomas which result in varying morbidity among haemophilic patients. Adequate haematological treatment and prophylaxis helps in preventing these haematomas. Currently, there is no uniform standard management protocol for this entity due to rarity of these lesions. PTH are seen in 1%–2% of the severe haemophilic patients. They may also be seen in moderate cases when adequate factor coverage is not provided or in cases with factor VIII inhibitors. We report a rare case of mandibular pseudotumour in a patient with moderate haemophilia and Glanzmann’s thrombasthenia, treated successfully with decompression of the haematoma. Postdecompression, sequential radiography revealed spontaneous bone regeneration at the site of the lesion. With 2 years follow-up, the mandible had no residual lesion. This reveals the role and potential of conservative decompression even in cases with severe osteodestruction secondary to developing haematoma of the mandible in haemophilic patients.

Background

Haemophilic patients not adequately having factor coverage are at a high risk of developing pseudotumour. Pseudotumours of haemophilia (PTH) is seen generally in 1%–2% of the reported cases of severe haemophilia,¹ with even more rare presentation in the mandible.^{2 3} These PTH are encapsulated haematoma which slowly progress resulting in bone and soft tissue involvement.⁴ As commonly reported PTH of mandible are seen in adolescents with a shorter duration of presentation generally a result of localised trauma. If the lesion is small in presentation, curettage under adequate factor VIII coverage is considered adequate.⁵ Radical respective surgery is reserved for large lesion with considerable bone destruction, however due to rarity of this entity, there is no single standardised approach for management of this entity. We report a unique case of PTH which was locally advanced at the time of presentation with severe osteodestruction, managed by conservative approach through decompression of haematoma. This outcome emphasises the role of conservative treatment in the management of these tumours.

Case presentation

A 11-year-old moderate haemophilic boy (factor VIII assay, 13.2%) who was also diagnosed to have Glanzmann’s thrombasthenia reported to the casualty with an episode of recurrent bleeding from the gums adjacent to the lower first molar and a history of slowly progressing facial swelling for 2 months. The patient had more than four previous episodes of bleeding in the last month which stopped by local measures and factor cover. Physical examination revealed gross facial disfigurement due to the left-sided facial swelling. The swelling was firm, painless, diffuse, of size around 10 cm x 10 cm over the left side of the face extending anteroposteriorly from the left commissure of the mouth to the left side angle of the mandible and superior inferiorly from the left tragus to the left side inferior border of the mandible. Intraoral findings were unremarkable with nil active bleed, mild bleeding was noticed from the perigingival tissue of grade 2 mobile left lower first permanent molar with mild gingivovestibular obliteration (figure 1). A CT scan revealed a lytic lesion over the left side angle–ramus region of the mandible and bicortical bone resorption of the mandible (figures 2 and 3). Orthopantomogram revealed radiolucent lesion on the ramus of the mandible with an impacted permanent second molar (figure 4). By correlating the radiographic and clinical finding, a diagnosis of PTH was made. The optimal treatment plan was difficult to determine in wake of severe risk of bleeding. Due to the extensiveness of the local effect of the developing haematoma, it was planned to decompress the haematoma following the extraction of the first permanent molar under adequate factor coverage instead of a radical resective approach. On the day of the dental extraction, the patient received replacement therapy with coagulation factor to control the postextraction bleeding. Injection factor VIII 400 units (20%) and three platelet rich concentrates were given 30 min before taking the patient for surgery. However, the patient had significant bleeding from the extraction site after the extraction and another 20% factor VIII correction (200) and three more platelet rich concentrates were administered. A total of 600 mL blood loss was noted, and haemoglobin reduced to 3 g/dL. Following this, the patient was administered another packed cell concentrate. Sixty-eight per cent factor VIII level was recorded, following which further administration of the factor was stopped. The bleeding was controlled with local measures and blood products. Patient was discharged from the ward after complete haemostasis was achieved. He was subsequently followed-up at regular 3-month intervals, and sequential orthopantomogram was done at each regular visit to determine the resolution of the lytic lesion of the mandible (figures 5–7). Postextraction patient did not have any episode of intraoral bleeding, and there was gradual decrease in the facial swelling, which indicated the recovery of the lesion and was confirmed by orthopantomogram showing spontaneous bone regeneration and even eruption of the impacted permanent molar.

Figure 1.

Intraoral image showing symptomatic left lower first molar with adjacent gingivobuccal obliteration.

Figure 2.

Three-dimensional CT reconstruction showing extensive osteodestruction of the lateral cortex at the angle–ramus region of the mandible due to the developing pseudotumour.

Figure 3.

Three-dimensional CT reconstruction showing extensive medial osteodestruction of the angle–ramus region of the mandible due to the developing pseudotumour.

Figure 4.

Orthopantomogram showing lytic lesion over the left side angle–ramus region with displaced permanent second molar to the inferior border.

Figure 5.

Orthopantomogram at 3 months postoperatively showing left lower second molar in the process of eruption with signs of bone formation at previous area of the pseudotumour at angle–ramus region of the mandible.

Figure 6.

Orthopantomogram at 6 months postoperatively showing left lower second molar in the process of eruption.

Figure 7.

Orthopantomogram at 9 months postoperatively showing erupted maxillary second molar as well as bone formation at the angle–ramus region of mandible.

Outcome and follow-up

Two-year follow-up showed remarkable healing without any subsequent episode of intraoral bleeding (figure 8).

Figure 8.

Postoperative orthopantomogram showing complete bone formation at the left side angle–ramus region of the mandible.

Discussion

PTH still presents a dilemma to the minds of the clinicians regarding the cause of its development and the choice of management. Starker in 1918 reported the first case of PTH.^{1 6} The overall incidence of PTH is 1%–2% and is mostly seen in individuals with severe haemophilia or in individuals not having an adequate factor coverage for prophylactic measure. PTH have also been reported to be associated with factor IX deficiency, prothrombin complex deficiency, haemarthrosis in proconvertin deficiency and acquired haemophilia.⁷ The first intraoral PTH was reported by Lazarovits and Griem,⁸ in 1968. He reported a 11-year-old with a mandibular lesion and mild haemophilia A which was treated successfully with curettage and factor support.

There is no clear pathogenic and aetiological factors associated with the development of PTH. The underlying mechanism may be attributed to pressure necrosis of the bone secondary to bleeding into a closed intraosseous space.⁹ The pathogenic sequelae of bleeding in haemophilia leads to cascade of events based on the distinct anatomical proximity, within the soft tissue it leads to neuropathy, within the bone results in pseudotumour and within the joints causes arthropathy. As seen in the traumatic bone cyst, the pathophysiology is thought to be similar with PTH wherein the developing haematoma causes the secondary destruction. Lee et al¹⁰ have proposed three types of pseudotumour: type 1 result due to bleeding into a large muscle mass adjacent to bone, which destroys underlying tissues by pressure necrosis; type 2 develop as a result of subperiosteal haemorrhage, which causes stripping of the periosteum from the cortex and pressure necrosis of the bone and type 3 develops due to intraosseous haemorrhage and necrosis. Gilbert et al¹¹ have suggested two theories for the formation of the PTH and have stated the role of anatomical location as the determinant for the progression of the two variants. Muscles having larger area of insertion especially in the proximal skeleton are prone to frequent trauma subsequently causing secondary erosion of the bone from outside, these tumours cause slow progressing painless and multilocular mass adhering to the underlying structures. These type of PTH are generally seen in adults and rarely respond to conservative treatment. Contrary to proximal PTH, distal variant is mostly seen affecting younger patients. They are seen more commonly in children and adolescents and are generally initiated due to direct trauma. Tumours distal to the wrist and the ankle are usually seen affected and unlike the proximal lesions, these distal pseudotumours progress rapidly due to intraosseous haemorrhage.

Distal PTH respond adequately to conservative treatment. The present case represents distal variant of PTH affecting mandible. Though exact nature of trauma was not elicited in this case, it is possible that mobility of the tooth may have been due to recurrent bleeding into the periodontal ligament space. This, along with poorly stabilised haemophilia and superadded Glanzmann’s thrombasthenia may have initiated intraosseous bleed and subsequent haematoma causing the development of PTH. This case is unique as at the time of presentation, there was massive bone destruction and an impacted molar which was evidently mimicking an odontogenic cyst. However, following extraction of the mobile first molar and subsequent spontaneous decompression of the haematoma, there was drastic reduction in size of the lytic lesion which was observed in the sequential orthopantomograms. The natural bone regeneration resulted in the normal bony architecture of the mandible in 9 months of follow-up with complete eruption of the impacted second molar. Various reports in literature regarding the treatment for PTH of mandible have suggested radiotherapy, hemimandibular resection, enucleation, curettage and supportive or replacement therapy with coagulation factors.^{4 12} Bryan et al¹³ stated that supportive therapy seems to be successful for lesions of recent onset and small size. Stoneman and Beierl¹⁴ have reported curettage of a mandibular lesion with the use of factor VIII replacement. The selected modality of the treatment is generally based on the anatomical location and the extensiveness of the lesion with surgical intervention being restricted to extensive tumours or in cases where a conservative approach has failed.⁶ This case emphasises that conservative approach towards these PTH could result in complete resolution even in cases of advanced bone destruction and stress on the fact that PTH of mandible especially when seen in children respond well with decompression and adequate factor support.

Learning points.

• Pseudotumours of haemophilia (PTH) of mandible in children would respond well to decompression under adequate factor VIII coverage.

• Though the decision of conservative management is made based on the anatomical presentation of these PTH and the extent of the tumour at the time of presentation, these tumours have good prognosis with conservative management by decompression.

• Henceforth, radical surgical modality must be considered as an option for advanced or recurrent cases.