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CASE REPORT
Year : 2009  |  Volume : 21  |  Issue : 1  |  Page : 25-31 Table of Contents   

Benign osteopetrosis with secondary osteomyelitic changes in the mandible: A report of two rare cases


Departments of Oral Medicine, Diagnosis and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai-600003, India

Date of Web Publication14-Nov-2009

Correspondence Address:
S Jayachandran
Departments of Oral Medicine, Diagnosis and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai-600003
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.57775

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   Abstract 

Osteopetrosis is a name given to a group of diseases that affect the growth and remodeling of the bone. It is characterized by overgrowth and sclerosis of bone, with a resultant thickening of bony cortices and narrowing of marrow cavities throughout the skeleton. Osteopetrosis is an uncommon disease of unknown cause, although a failure of bone resorption related to defective osteoclasts is at the root of the problem. Herewith, we present two cases of benign osteopetrosis with secondary osteomyelitic changes in the mandible with description of dental considerations and review of the literature.

Keywords: Albers-Schonberg disease, marble bone disease and osteopetrosis


How to cite this article:
Jayachandran S, Mohamed Riyaz S, Kayal L. Benign osteopetrosis with secondary osteomyelitic changes in the mandible: A report of two rare cases. J Indian Acad Oral Med Radiol 2009;21:25-31

How to cite this URL:
Jayachandran S, Mohamed Riyaz S, Kayal L. Benign osteopetrosis with secondary osteomyelitic changes in the mandible: A report of two rare cases. J Indian Acad Oral Med Radiol [serial online] 2009 [cited 2019 Apr 18];21:25-31. Available from: http://www.jiaomr.in/text.asp?2009/21/1/25/57775


   Introduction Top


Osteopetrosis, first described by a German radiologist Albers Schonberg in 1904, is a rare bone disease that may present in one of three distinct forms Osteopetrosis tarda, the most benign form (autosomal dominant), presents in adulthood and is often diagnosed incidentally on routine radiographs, whereas the two more malignant variants (autosomal recessive), osteopetrosis congenita and marble bone disease (intermediate form), present in infancy and childhood. [1] The incidence is 1 in 1,00,000 to 5,00,000. [2] Diagnosis is usually by X-rays which are usually diagnostic. [3] In all three forms, the main features are pathologic alteration of osteoclastic bone resorption and thickening of cortical and lamellar bones. [4]




   Case Reports Top


Case 1

A 47 year old male came to the Department of Oral Medicine and Maxillofacial Radiology of our hospital with the chief complaint of pain and swelling in the lower jaw in the front teeth region of one month duration. The swelling subsided on taking antibiotics but it recurred after stopping it. Past dental history revealed that there was spontaneous exfoliation of some teeth and others were extracted due to dental caries and periodontal pathology and the immediate post operative period was uneventful. Personal history revealed that he was the only person affected with this condition in his family.

On general examination, he was short statured, moderately nourished, and he limped while walking. His sense of vision and hearing were normal. The vital signs were normal. He was anemic and there were no signs of cyanosis, clubbing and jaundice. On extra oral examination, he had a large head with frontal bossing; and ill defined diffuse swelling in the mandibular anterior region with an extra oral sinus in the left parasymphysis region. On intra oral examination, there was expansion of mandibular alveolus with exposure of bone in the right mandibular anterior alveolar region [Figure 1]a-c.

Radiological evaluation: Mandibular cross sectional occlusal view reveals rarefaction in the mandibular anterior region and reactive bone formation in the labial and buccal aspect which was the cause for the clinical appearance of bony expansion of the mandibular alveolus.OPG revealed predominantly osteolytic areas from 35 to 45, loss of lamina dura around 36 and 46, widening of periodontal ligament space in 37 and 47, impacted 38 and 48 and increased radio density around 36, 37 indicating osteosclerosis [Figure 2]a and [Figure 2]b.

True lateral skull view increased radio density in the vault and base of the skull [Figure 3]. Chest X-ray [AP VIEW] showed increased radio density and bowing of left humerus; enlargement of left ventricle of heart was also seen [Figure 4]a and [Figure 4]b. The hand wrist radiograph showed hair line fracture of the right radius [Figure 5]a and [Figure 5]b. X-ray pelvic region revealed fracture at the right proximal head of femur abutting the iliac bone [Figure 6]. It also showed plating done for a previous fracture on the left side. Lumbar lateral view showed end plate thickening producing what is called a "rugger jersey spine appearance." [Figure 7]a, [Figure 7]b and [Figure 8]

Laboratory investigations revealed RBC(TC)-2.5 million/cubic mm, WBC(TC)-7000/c.mm, ESR-20mm/ hr, Hb%-8 grams%, urinary sugar and albumin-nil, serum calcium-8.5 mg/dl, serum phosphorus- 4 mg/ dl. Serum alkaline phosphatase-121 U/L, Serum Acid Phosphatase-4 U/L [normal 0.2-1.8 U/L), urinary hydroxyl proline levels with in normal limits. Culture sensitivity testing done with the pus collected with a swab intra orally revealed the organism as Staphylococcus aureus.

Correlating the history, clinical and radiological features and laboratory findings, the condition was diagnosed as Benign Osteopetrosis with secondary osteomyelitic changes in the mandible.

Case 2

A 33 year old female came to our department with the chief complaint of pain and swelling in the right cheek region of 6 months duration. The swelling subsided on taking antibiotics only to recur later after stopping it. Past dental history revealed that there was spontaneous exfoliation of some teeth and other teeth were extracted due to dental caries and periodontal pathology and the immediate post operative period was uneventful. Personal history revealed that her brother was affected with the same condition and she was unmarried.

General examination revealed that the patient was short statured, moderately nourished and she was limping while walking. There was frontal bossing and shortening of phalanges of the hands and the feet [Figure 9]a-c. Her sense of vision and hearing were normal. She appeared anaemic on clinical examination. Extra oral examination revealed ill-defined diffuse swelling in the Right mandibular body region. There were two extra oral sinuses, one below the right body of the mandible and the other behind the angle of the mandible. Intra oral examination revealed obliterated right vestibular sulcus with pus emanating from it [Figure 10]a-c. [Figure 12] shows the post operative OPG.

OPG revealed mixed radio opaque-radiolucent lesion with thinning of alveolar bone predominantly seen in the mandibular body region with supra eruption of molars. Conglomerate radio dense masses are dispersed throughout the mandible and left maxillary posterior region. Focal osteosclerosis was seen surrounding 36 and 37. Pathological fracture of the angle of the mandible was very much evident on right lateral oblique view the mandible [Figure 11]a and [Figure 11]b. Posteroanterior and lateral skull view showed increased radio density of the skull [Figure 12]a and [Figure 12]b. Chest X-ray showed increased radio density with enlarged left ventricle [Figure 13]. X-ray pelvic region showed fracture of the left proximal head of the femur [Figure 14].

Axial contrast enhanced CT showed enlarged right parotid gland with central hypo dense area with surrounding diffuse contrast enhancement suggestive of inflammatory pathology [Figure 15], [Figure 16]. FNAC was done to confirm it.

Laboratory investigations revealed RBC(TC)-3.5 million/ C.mm, WBC(TC)-7000/C.mm, ESR-25 mm/ hr, Hb%-9 grams%, urine sugar and albumin-nil, serum calcium- 8 mg/ dl, serum phosphorus-4.5 mg/ dl, serum alkaline phosphatase- 124U/L, serum acid phosphatase- 4.5 mg/ dl, urinary hydroxyl proline levels- within normal limits and culture sensitivity testing with the pus collectected by means of a swab intra orally revealed the organism as Staphylococcus Aureus.

Correlating the history, clinical and radiological features and laboratory findings, the condition was diagnosed as Benign Osteopetrosis with secondary osteomyelitic changes in the mandible.


   Discussion Top


The differential diagnosis in these two cases

  1. Fluorosis in adults
  2. Paget's disease
  3. Polyostotic fibrous dysplasia
  4. Florid osseous dysplasia


Fluorosis in adults can be ruled out by the clinical presentation [lack of calcification of ligaments, scissors gait etc. and both the patients are not from the fluoride belt]. Paget's disease can be ruled out by the lack of raise in alkaline phosphatase and urinary hydroxyl proline levels. Furthermore, among these conditions, acid phosphatase levels increase exclusively in osteopetrosis. Polyostotic fibrous dysplasia can be ruled out by the lack of asymmetric enlargement of bones; Also it affects a section of the bone rather than complete bone. [5] In both the cases, Florid osseous dysplasia was ruled out because the findings were not confined to only the maxilla and the mandible and the histopathological examination of the post operative specimen revealed it as Osteomyelitis of chronic diffuse sclerosing type which was complimented by the radiological findings and culture sensitivity testing giving the orientation for the Pathologist towards the correct diagnosis of Osteomyelitis. Bone biopsy is not essential for the diagnosis of Osteopetrosis as radiographs are diagnositic. [6] [Table 1] gives the differentiating features between the two cases. [Table 2] gives the genes involved in Osteopetrosis and related disorders.


   Management Top


  1. Vitamin D [7]
  2. Gamma interferon [8]
  3. Erythropoietin [9]
  4. Bone marrow transplant-for cases of osteopetrosis congenita [10]
  5. Surgery-for aesthetic reasons or to prevent further complications [11]


Dental considerations:

  1. Any oral foci of infection should be removed (especially grossly carious teeth, infected root stumps)
  2. Counsel patients to avoid activities that might increase their risk of fractures
  3. Minor and major surgical procedures should be done with fewer traumas and under appropiate antibiotic therapy as these patients are more prone towards osteomyelitic changes.
  4. Restorations and oral prophylaxis should be done at regular intervals to prevent spread of oral infection


Adults with osteopetrosis have better prognosis and survival rates. The other two forms are lethal with in the first or second decade of life. Anemia, bleeding and infections are the major causes of death in osteopetrosis. [1]

 
   References Top

1.Beighton P, Hamersma H, Cremin BJ. Osteopetrosis in South Africa: The benign, lethal and intermediate forms. S Afr Med J 1979;55:659-65.  Back to cited text no. 1  [PUBMED]    
2.Shapiro F. Osteopetrosis: Current clinical considerations. Clin Orthop Relat Res 1993;294:34-44.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]  
3.Stoker DJ. Osteopetrosis. Semin Musculoskelet Radiol 2002;6:299-305.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]  
4.Tolar J, Teitelbaum SL, Orchard PJ. Osteopetrosis. N Engl J Med 2004;351:2839-49.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]  
5.Wood NK, Goaz PW. Differential diagnosis of oral and maxillofacial lesions. 5 th ed. Mosby, An imprint of Elsevier publications; 2006.  Back to cited text no. 5      
6.Rajendran R, Sivapathasundaram B. Shafer's textbook of oral pathology. 5 th ed. Elsevier Publications; 2006.  Back to cited text no. 6      
7.Key L, Carnes D, Cole S, Holtrop M, Bar-Shavit Z, Shapiro F, et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med 1984;310:409-15.  Back to cited text no. 7      
8.Key LL Jr, Rodriguiz RM, Willi SM, Wright NM, Hatcher HC, Eyre DR, et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 1995;332:1594-9.  Back to cited text no. 8      
9.Meletis J, Samarkos M, Michali E, Vavourakis S, Meletis C, Poziopoulos C, et al. Correction of anaemia and thrombocytopenia in a case of adult type I osteopetrosis with recombinant human erythropoietin (rHuEPO). Br J Hematol 1995;89:911-3.  Back to cited text no. 9      
10.Solh H, Da Cunha AM, Giri N, Padmos A, Spence D, Clink H, et al. Bone marrow transplantation for infantile malignant osteopetrosis. J Pediatr Hematol Oncol 1995;17:350-5.  Back to cited text no. 10      
11.Becelli R, Sassano P. The maxillofacial functional and esthetic surgical aspects in a case of osteopetrosis. Minerva Stomatol 1994;43:591-4.  Back to cited text no. 11      


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14], [Figure 15], [Figure 16]
 
 
    Tables

  [Table 1], [Table 2]



 

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    Abstract
    Introduction
    Case Reports
    Discussion
    Management
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