Imaging features of paediatric haemophilic pseudotumour of the maxillary bone: report of three cases and review of the literature

Abstract

Objectives: Haemophilic pseudotumour (HP) is an extremely rare lesion. The purpose of this study was to describe the CT and MRI features of maxillary bone HPs and introduce the key points to differentiate HP from the mimicking entities in the region. Methods: We retrospectively reviewed three paediatric patients with histologyproven HPs arising from the maxillary bone. All three patients underwent CT and/or MRI. Combined with six previously reported cases in the literature, the imaging features were comprehensively analysed. Results: All HPs showed a well-demarcated, multilobulated expansile osteolytic lesion in the maxillary bone. On non-enhanced CT, HPs appeared of mixed density relative to grey matter. The lesions appeared to have markedly heterogeneous signal intensity on both T 1 and T 2 weighted images, with septa-like enhancement following the administration of contrast material, which corresponded to blood products in various stages of evolution. The lesions caused cortical thinning and even focal disappearance and multiple bone septa were identified within the involved maxillary bone. Some HPs were associated with radiated periosteal proliferation, which can easily be misdiagnosed as a malignant bone tumour. Conclusion: A high index of suspicion for HP and a familiarity with imaging findings may help to accurately diagnose this rare entity. Haemophilic pseudotumour (HP) is a rare and serious complication that occurs in 1-2% of patients with severe haemophilia, and most frequently develops in the femur, tibia, pelvic bones, small bones of the hand and, rarely, in the craniofacial bones [1][2][3][4][5][6]. It is essentially an encapsulated haematoma resulting from repetitive bleeding and is surrounded by a thick, fibrous capsule. To the best of our knowledge, a total of six cases of maxillary bone HPs have been reported in the literature to date [1,2,[7][8][9][10]; unfortunately, the imaging findings were not described effectively. During the past 10 years, HPs in the maxillary bone have been confirmed by histopathology in three children at our hospital. The imaging findings of these three HPs were retrospectively reviewed and, combined with the literature, the value of using CT and MR imaging to diagnose, treat and follow up patients with HP in the maxillary bone was also discussed. Methods and materialsThis study was approved by the institutional review board. We retrospectively reviewed the CT and MRI findings of three patients with histology-proven HPs over a 10-year period

Pseudotumour of the Mandible Associated with von Willebrand’s Disease

“…Intra muscular pseudotumours may be seen in areas of greater mobility and more prone to minor trauma such as the major flexors of the limbs, the calf, and forearm flexors. Our review of literature suggested that pseudotumours of the mandible or maxilla, occurred in young patients rather than in adults [2,3,[7][8][9][10]. It has only been described in the dentate region of the mandible and not elsewhere.…”

“…The possible reasons for pseudotumours arising in the mandible are not clear. Though trauma has been established to be an important etiological factor, sometimes these may occur in the absence of a history of trauma [8]. Tooth eruption is known to cause bleeding [11]; we postulate that the physiologic process of tooth eruption of either the premolar or the second molar itself may have been the cause for pseudotumour developing in the mandible in this case.…”

Haemophilic pseudotumour in two parts of the maxilla: case report

“…In this report, we briefly summarized our case and the previous 24 studies, 1,[3][4][5][6][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] which included 32 cases, on haemophilic pseudotumours of the jaw. Table 1 shows the summary of studies conducted between 1968 and 2014, including the present case.…”

“…Numerous attempts have been made to treat a haemophilic pseudotumour of the jaw by using treatment modalities such as radiotherapy, 5,10,20,21 cryoprecipitation, 11 curettage, 3,12,17,26 enucleation, 14,23 replacement therapy, 1,3,4,9,15,19,22,25,26 immobilization, 19 ethanol embolization 24 and resection. 4,13 The treatment plan is chosen on a case-by-case basis, and most physicians have accepted that replacement therapy that provides the coagulation factor is a fundamental component of treatment and another appropriate therapy with replacement therapy is effective.…”

Haemophilia and Cancer: A Literature Review

“…Most of the evidence is in the adult population. There are only a few cases found in the paediatric population [ 13 , 14 ].…”