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CASE REPORT
Year : 2016  |  Volume : 34  |  Issue : 1  |  Page : 82-86
 

Self healing hemophilic pseudotumor of the mandible in a 5-year-old boy, an interesting and rare finding: Case report and review


1 Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental and Medical Sciences, Lucknow, Uttar Pradesh, India
2 Department of Oral Medicine and Radiology, Mahe, Kerala, India
3 Department of Periodontology, Subharti Dental College, Meerut, Uttar Pradesh, India
4 Department of Oral Medicine and Radiology, Narinbhai Patel Dental College and Hospital, Visnanagar, Gujrat, India

Date of Web Publication2-Feb-2016

Correspondence Address:
Ruchika Keshaw Prasad
Senior Lecturer, Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental and Medical Sciences, Raebarelli Road, Chaudhry Vihar, Lucknow, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.175524

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   Abstract 

Hemophilic pseudotumor (PT) is a very rare complication of hemophilia consisting of a chronic, encapsulated, hemorrhagic fluid collection occurring both in the soft tissues and/or bone.
Radiological features of osseous hemophilic PT are nonspecific and mimic several other benign or malignant bone tumors or infectious processes. Although the diagnosis is usually made on the location of the lesion and by the knowledge of the underlying disease, the radiologist should be aware of the imaging characteristics, in order to avoid misinterpretation as a malignant tumor, as biopsy of these lesions is contraindicated. [1]


Keywords: Hemophilia, mandible, pseudotumor, resorbing


How to cite this article:
Prasad RK, Siva B, Rajpal J, Singh A. Self healing hemophilic pseudotumor of the mandible in a 5-year-old boy, an interesting and rare finding: Case report and review. J Indian Soc Pedod Prev Dent 2016;34:82-6

How to cite this URL:
Prasad RK, Siva B, Rajpal J, Singh A. Self healing hemophilic pseudotumor of the mandible in a 5-year-old boy, an interesting and rare finding: Case report and review. J Indian Soc Pedod Prev Dent [serial online] 2016 [cited 2019 Jul 22];34:82-6. Available from: http://www.jisppd.com/text.asp?2016/34/1/82/175524



   Introduction Top


Hemophilia represents a hereditary defect in coagulation. Factor VIII (antihemophilic factor) deficiency leading to classic hemophilia (type A) whereas, deficiency of factor IX (plasma prothromboplastin component) causes Christmas disease (hemophilia type B). These genetic disorders are X-linked recessive which means that they primarily affect males but are transmitted through females. The clinical and radiological features of patients with type A and B hemophilia are virtually identical. [1]

According to Ahlberg, these pseudotumors (PT) occur in 1-2% of severe hemophiliacs. The intraosseous location is far less frequent than soft tissue location. [1],[2] The first report of hemophilic PT was presented by Starker in 1918. [1] He described a 14-year-old hemophiliac who sought medical aid because of a large swelling in his right thigh. [3]

Although the hemarthroses of hemophilia are well-known manifestations of this disease, it is not commonly realized that abnormal bleeding may also cause bone destruction in sites remote from the articulations. Such osteolytic lesions are generally accompanied by massive soft tissue swelling and usually, therefore, are called PTs of hemophilia. The clinical and roentgenologic manifestations may be indistinguishable from those of malignant osteolytic tumors. [3]

Little is known regarding the pathologic physiology of this complication of hemophilia. The exact anatomic site of the hemorrhage and the nature of the process producing bone destruction are uncertain. It is possible that the bleeding originates from the periosteum and produces erosion by pressure from the outside, intramedullary hemorrhage might also have this effect by increasing internal pressure on the shaft. Others have suggested that the hematomas may originate through an extension from old hemarthroses. [3]

PTs are categorized as osseous and soft tissue lesions, on the basis of anatomic location. The radiographic findings of a soft tissue mass with areas of calcification and adjacent bone destruction in a patient with hemophilia are usually sufficient to make the diagnosis of a PT. Conventional radiography, sonography, computed tomography (CT), and magnetic resonance imaging (MRI) each plays an important role in the diagnosis, characterization, and management. [4],[5],[6],[7],[8]


   Differential Diagnosis Top


The differential diagnosis of such localized osteolytic lesions which may show varying degrees of irregular margination, periosteal elevation and new bone formation include osteomyelitis, osteitis deformans, giant cell tumor, osteitis fibrosa cystica, solitary plasmacytoma, reticulum cell sarcoma, metastatic malignancy, and osteogenic sarcoma. The primary and secondary malignancies, both, are clearly the most important considerations. Differentiation from osteogenic sarcoma, in particular, may be the most difficult.

A presumptive diagnosis of PT should probably be made in any instance where a patient with known bleeding tendencies develops a slowly growing mass. Awareness of such a possibility in hemophilia may well save the patient exploration or even amputation. Needle aspiration is a safer biopsy technique than surgical incision. However, in the presence of a hematoma in a hemophiliac patient even this presents a considerable risk. The dangers of hemorrhage and infection are continually present.

The inflammatory PT of hemophilia causes the repeated bleeding inside the bone or the cartilage which may lead to the bone absorption or the cystic degeneration. The bone marrow, joint capsule, and the joint may get damaged or develop necrosis due to the mechanical and chemical stimulation by the cellulose, hemosiderin, and other substances in the blood. The rising intraosseous pressure may cause osteolytic bone destruction and swelling with subsequent damage. In some instances, the extreme swelling can lead to the breakthrough of the cortical bone.

The PT is often associated with soft tissue swelling and periosteal reaction. The hyperplasia of the periosteum may risk further damage. The PT occurred in the long bones can easily cause pathological bone fractures, which easily get misdiagnosed as the bone tumor if patient's clinical history of easy bleeding is neglected. Hemophilic PT has X-ray characteristics of both benign and malignant bone tumors, such as bone destruction, periosteal reaction, and new bone formation. Therefore, once the patient is admitted, the doctor should check details of the patient's clinical history and combine them with other checkup data to make the correct diagnosis. [9],[10],[11],[12],[13],[14]


   Pathophysiology Top


The mechanism of PT of bone is not understood well as stated above. Pathogenesis is unclear, and several cases have been suggested:

Necrosis due to compression (bone destruction in the presence of hemarthrosis).

Subperiosteal or soft tissue hemorrhage with necrosis and bone destruction followed by bone formation and

Intraosseous hemorrhage, followed by cystic alterations with bone destruction and subsequent hemorrhage. [14],[15],[16],[17],[18]


   Radiographic Features Top


On radiographs, the intraosseous PT typically presents as a lytic well defined (geographic) often expansile lesion with possible extension in the soft tissues. [19],[20],[21] Marginal sclerosis is usually present. [22],[23]

Sometimes scattered foci of calcification or ossification are found throughout the lesion. [21],[24]

PTs may be quite destructive and completely replace segments of bone. Lesions may be central intramedullary or eccentric in location. Complications, such as pathologic fracture may be easily detected by standard radiographs.

On angiograms, PTs are avascular with mass effect on the neighboring vessels which may show narrowing. [19]

CT scan is an excellent tool for preoperative visualization of the extent of the lesion, its mass effect on vital surrounding structures and possible invasion of joints. CT is also best suited for detection of intralesional calcifications, internal gas bubbles due to superinfection, cortical expansion, and perforation whereas MRI is the imaging method of choice in defining the soft tissue components and assessing the medullary space. [19]

MRI of osseous hemophilic PT has been scarcely reported in the literature. [1]


   Treatment Top


Therapy, in our opinion, should be aimed at the correction or control of the underlying coagulation defect. Active bleeding must be stopped. Repeated plasma transfusions over a long period of time may be required. Fresh plasma or stored plasma may be given depending on whether the patient is Antihemophilic globulin or prothrombin combustion test deficient. Roentgen therapy has been advocated in the past on the assumption that it hastens resorption of the tumor. [3],[17]

Radiotherapy with or without factor VIII supplement has established better results in the previous studies. The mechanism of action of radiation is postulated to be the derangement of the micro vascular architecture of the PT, resulting in increased fibroblastic activity and subsequently fibrosis. Secondary calcification occurs in 4 weeks, and complete healing occurs in 8-12 weeks. Literature provides evidence that low-dose radiation for hemophilic PT is sufficient. [18],[19]


   Case Report Top


The proposita, a 5-year-old male child, was the third child born to healthy nonconsanguineous parents. The family history was otherwise unremarkable, but his medical history revealed that he was a diagnosed case of hemophilia B and was under treatment. He was born normally at term after an uneventful pregnancy.

His father reported to us and complained that the child had pain in the right lower back tooth region since around 10 days which started gradually, was sharp and radiating to the ear, which regressed and aggravated on its own.

His father further revealed that the pain was initially accompanied with swelling which initially was small in size, but increased significantly in 1-month after which the child had difficulty in closing the mouth. He also reported frequent episodes of bleeding from the swelling following which he visited his physician who factor infusion. The child was very apprehensive and hence intraoral examination could not be conducted. They reported to us with an OPG [Figure 1]. The child was than advised to undergo a CT examination of the maxillofacial region which revealed an expansile multilocular lesion involving the body, neck, condylar process, and ramus of the right side of the mandible [Figure 2]. His hemoglobin count at the time of presentation with the swelling was 8.0 g%, and the value of Factor IX was 25.6% as compared to the normal biological reference range of 60-110%. Factor VIII was within the normal reference range of 60-150%. It was 88.8% when the patient reported to us.
Figure 1: Orthopantomogram of the first visit of the patient. Multilocular lesion involving the right side of the mandible

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Figure 2: Computed tomography image of the swelling involving the right side OG the mandible

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The swelling gradually reduced after the factor infusion.

He reported again to us after a about 6 months with the complaint of mild pain and swelling in the same tooth region [Figure 3].
Figure 3: Intraoral swelling

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Intraoral examination revealed pericoronal flap IRT 46 with fresh, spontaneous bleeding on applying pressure. The follow-up radiograph further revealed regression of the PT [Figure 4].
Figure 4: Sagittal view of the swelling in the computed tomography

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The child was again referred to his consultant for factor infusion before operculectomy [Figure 5]. He did not report back to us with his consultants consent.
Figure 5: Intraoral swelling has regressed after the infusion

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   Discussion Top


The diagnosis of PT is evident on the basis of clinical judgment, history of trauma, bleeding episodes, radio imaging, and response of the disease to the treatment. Invasive methods to establish diagnosis like aspiration and biopsy are not favored for the fear of complication such as; uncontrolled bleeding, skin necrosis, and nonhealing ulcers following procedures. As the swelling progresses, increasing pressure leads to the slow destruction of adjacent structures by progressive necrosis.

It has become apparent that PT of hemophilia can occur early in those hemophilia patients who sustain the most minor injury. The onset of an acute hemorrhage, which if allowed to continue and is not promptly treated, leads to the ultimate formation of PTs.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Kerr R. Imaging of musculoskeletal complications of hemophilia. Semin Musculoskelet Radiol 2003;7:127-36.  Back to cited text no. 1
    
2.
Gaary E, Gorlin JB, Jaramillo D. Pseudotumor and arthropathy in the knees of a hemophiliac. Skeletal Radiol 1996;25:85-7.  Back to cited text no. 2
    
3.
Hermann G, Gilbert MS, Abdelwahab IF. Hemophilia: Evaluation of musculoskeletal involvement with CT, sonography, and MR imaging. AJR Am J Roentgenol 1992;158:119-23.  Back to cited text no. 3
    
4.
Hermann G, Gilbert M. Case report 471. Hemophilic pseudotumors (presumptive diagnosis) and hemophilic arthropathy of elbow. Skeletal Radiol 1988;17:152-6.  Back to cited text no. 4
    
5.
Geyskens W, Vanhoenacker FM, Van der Zijden T, Peerlinck K. MR imaging of intra-osseous hemophilic pseudotumor: Case report and review of the literature. JBR-BTR 2004;87:289-93.  Back to cited text no. 5
    
6.
Ahlberg AK. On the natural history of hemophilic pseudotumor. J Bone Joint Surg Am 1975;57:1133-6.  Back to cited text no. 6
    
7.
Silber R, Christensen WR. Pseudotumor of hemophilia in a patient with PTC deficiency. Blood 1959;14:584-90.  Back to cited text no. 7
    
8.
Resnick D, editor. Diagnosis of Bone and Joint Disorders. 4 th ed. Philadelphia: WB Saunders; 2002. p. 2346-73.  Back to cited text no. 8
    
9.
Hermann G, Gilbert MS, Abdelwahab IF. Hemophilia: Evaluation of musculoskeletal involvement with CT, sonography, and MR imaging. AJR Am J Roentgenol 1992; 158:119-23.  Back to cited text no. 9
    
10.
Hermann G, Yeh HC, Gilbert MS. Computed tomography and ultrasonography of the hemophilic pseudotumor and their use in surgical planning. Skeletal Radiol 1986;15:123-8.  Back to cited text no. 10
    
11.
Wilson DA, Prince JR. MR imaging of hemophilic pseudotumors. AJR Am J Roentgenol 1988;150:349-50.  Back to cited text no. 11
    
12.
Muller JH. About The X-ray therapy of so-called. Resorption eosinophilia. Radiotherapy. JAMA Surg 1942;72:281.  Back to cited text no. 12
    
13.
Liu B, Liu L, Feng Y, Li L. A case report on the surgical treatment of the huge inflammatory pseudotumor in the AIDS patient with hemophilic. Case Rep Pathol 2011;2011:798649.  Back to cited text no. 13
    
14.
Geyskens W, Vanhoenacker FM, Van der Zijden T, Peerlinck K. MR imaging of intra-osseous hemophilic pseudotumor: Case report and review of the literature. JBR-BTR 2004;87:289-93.  Back to cited text no. 14
    
15.
Liu SS, White WL, Johnson PC, Gauntt C. Hemophilic pseudotumor of the spinal canal. Case report. J Neurosurg 1988;69:624-7.  Back to cited text no. 15
    
16.
Hilgartner MW, Arnold WD. Hemophilic pseudotumor treated with replacement therapy and radiation. Report of a case. J Bone Joint Surg Am 1975;57:1145-6.  Back to cited text no. 16
    
17.
Jensen PS, Putman CE. Hemophilic pseudotumor. Diagnosis, treatment, and complications. Am J Dis Child 1975;129:717-9.  Back to cited text no. 17
    
18.
Rijal L, Neogi DS, Ansari MT, Khan SA, Yadav CS. Hemophilic pseudotumor - Is there a role of radiotherapy? Literature review and a case report. Nepal Med Coll J 2010;12:193-7.  Back to cited text no. 18
    
19.
Guilford WB, Mintz PD, Blatt PM, Staab EV. CT of hemophilic pseudotumors of the pelvis. AJR Am J Roentgenol 1980;135:167-9.  Back to cited text no. 19
    
20.
van Ommeren JW, Mooren DW, Veth RP, Novakova IR, van de Kaa CA. Pseudotumor occurring in hemophilia. Arch Orthop Trauma Surg 2000;120:476-8.  Back to cited text no. 20
    
21.
Stafford JM, James TT, Allen AM, Dixon LR. Hemophilic pseudotumor: Radiologic-pathologic correlation. Radiographics 2003;23:852-6.  Back to cited text no. 21
    
22.
Gaary E, Gorlin JB, Jaramillo D. Pseudotumor and arthropathy in the knees of a hemophiliac. Skeletal Radiol 1996;25:85-7.  Back to cited text no. 22
    
23.
Jaovisidha S, Ryu KN, Hodler J, Schweitzer ME, Sartoris DJ, Resnick D. Hemophilic pseudotumor: Spectrum of MR findings. Skeletal Radiol 1997;26:468-74.  Back to cited text no. 23
    
24.
Iwata H, Oishi Y, Itoh A, Ishiguro N, Yamaga H, Miyamoto N, et al. Surgical excision of hemophilic pseudotumor of the ilium. Clin Orthop Relat Res 1992;284:234-8.  Back to cited text no. 24
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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