Imaging Science in Dentistry

Korean Academy of Oral and Maxillofacial Radiology (대한영상치의학회)
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Report of two cases of osteopetrosis with maxillary osteomyelitis in siblings

상악 골수염을 동반한 골화석증의 증례보고

  • Lee, Byung-Do (Department of Oral and Maxillofacial Radiology, College of Dentistry, Wonkwang University) ;
  • Park, Yong-Chan (Department of Oral and Maxillofacial Radiology, College of Dentistry, Wonkwang University) ;
  • Kang, Seung-Hwan (College of Dentistry, Wonkwang University) ;
  • Kim, Bo-Guk (College of Dentistry, Wonkwang University) ;
  • Kwon, Kyung-Hwan (Department of Oral and Maxillofacial Surgery, College of Dentistry, Wonkwang University) ;
  • Lee, Seoung-Hoon (Department of Oral Microbiology and Immunology, Wonkwang Institute of Biomaterial.Implant, College of Dentistry, Wonkwang University)
  • 이병도 (원광대학교 치과대학 구강악안면방사선학교실) ;
  • 박용찬 (원광대학교 치과대학 구강악안면방사선학교실) ;
  • 강승환 (원광대학교 치과대학) ;
  • 김보국 (원광대학교 치과대학) ;
  • 권경환 (원광대학교 치과대학 구강악안면외과학교실) ;
  • 이승훈 (원광대학교 치과대학 구강미생물학 및 면역학교실, 원광생체재료.매식 연구소)
  • Received : 2010.10.31
  • Accepted : 2010.11.22
  • Published : 2010.12.31
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Abstract

Osteopetrosis is a rare bone disease characterized by systemic osteosclerosis due to an osteoclast dysfunction that decreases bone resorption. This report demonstrates two cases of adult osteopetrosis with secondary osteomyelitis of the maxilla, in siblings who are 43-year old female and 55-year old, male respectively. The common radiographic features of these cases were increased radiopacity in skull, rib and vertebra. The radiographic features that differed between these two cases were the osteosclerotic pattern of the jaw bones, that is, diffuse patterns in the female case, while the male case showed nodular patterns that were confined to the root apices. The diagnosis of osteopetrosis may be complicated due to the varying degree of osteosclerosis on panoramic radiograph. Additional radiographs such as the chest and skull radiograph may be helpful for the diagnosis of osteopetrosis.

Keywords

References

  1. Junquera L, Rodriguez-Recio C, Villarreal P, Garcia-Consuegra L. Autosomal dominant osteopetrosis and maxillomandibular osteomyelitis. Am J Otolaryngol 2005; 26 : 275-8. https://doi.org/10.1016/j.amjoto.2005.01.007
  2. Benichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Mapping of autosomal dominant osteopetrosis type II (Albers- Schonberg disease) to chromosome 16p13.3. Am J Hum Genet 2001; 69 : 647-54. https://doi.org/10.1086/323132
  3. Stocks RM, Wang WC, Thompson JW, Stocks MC 2nd, Horwitz EM. Malignant infantile osteopetrosis: otolaryngological complications and management. Arch Otolaryngol Head Neck Surg 1998; 124 : 689-94. https://doi.org/10.1001/archotol.124.6.689
  4. Dick HM, Simpson WJ. Dental changes in osteopetrosis. Oral Surg Oral Med Oral Pathol 1972; 34 : 408-16. https://doi.org/10.1016/0030-4220(72)90316-7
  5. Bakeman RJ, Abdelsayed RA, Sutley SH, Newhouse RF. Osteopetrosis: a review of the literature and report of a case complicated by osteomyelitis of the mandible. J Oral Maxillofac Surg 1998; 56 : 1209-13. https://doi.org/10.1016/S0278-2391(98)90774-1
  6. Kim KA, Lim SY, Koh KJ. Benign osteopetrosis: report of a case. Korean J Oral Maxillofac Radiol 2000; 30 : 80-6.
  7. Benichou OD, Laredo JD, de Vernejoul MC. Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. Bone 2000; 26 : 87-93. https://doi.org/10.1016/S8756-3282(99)00244-6
  8. Ruprecht A, Wagner H, Engel H. Osteopetrosis: report of a case and discussion of the differential diagnosis. Oral Surg Oral Med Oral Pathol 1988; 66 : 674-9. https://doi.org/10.1016/0030-4220(88)90316-7
  9. Kim YH, Yi JS, Yoon SJ, Kang BC. Osteopetrosis tarda. Korean J Oral Maxillofac Radiol 1999; 29 : 507-21.
  10. Barry CP, Ryan CD, Stassen LF. Osteomyelitis of the maxilla secondary to osteopetrosis: a report of 2 cases in sisters. J Oral Maxillofac Surg 2007; 65 : 144-7. https://doi.org/10.1016/j.joms.2005.07.019
  11. Barry CP, Ryan CD. Osteomyelitis of the maxilla secondary to osteopetrosis: report of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003; 95 : 12-5. https://doi.org/10.1067/moe.2003.25
  12. Loria-Cortes R, Quesada-Calvo E, Cordero-Chaverri C. Osteopetrosis in children: a report of 26 cases. J Pediatr 1977; 91 : 43-7. https://doi.org/10.1016/S0022-3476(77)80441-1
  13. Bollerslev J, Andersen PE Jr. Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 1988; 9 : 7-13. https://doi.org/10.1016/8756-3282(88)90021-X
  14. Andersen PE Jr, Bollerslev J. Heterogeneity of autosomal dominant osteopetrosis. Radiology 1987; 164 : 223-5. https://doi.org/10.1148/radiology.164.1.3588909
  15. Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 1985; 313 : 139-45. https://doi.org/10.1056/NEJM198507183130302
  16. Hinkel CL, Beiler DD. Osteopetrosis in adults. Am J Roentgenol Radium Ther Nucl Med 1955; 74 : 46-64.
  17. Vazquez E, Lopez-Arcas JM, Navarro I, Pingarron L, Cebrian JL. Maxillomandibular osteomyelitis in osteopetrosis. Report of a case and review of the literature. Oral Maxillofac Surg 2009; 13 : 105-8. https://doi.org/10.1007/s10006-009-0151-y
  18. Walsh MC, Kim N, Kadono Y, Rho J, Lee SY, Lorenzo J, et al. Osteoimmunology: interplay between the immune system and bone metabolism. Annu Rev Immunol 2006; 24 : 33-63. https://doi.org/10.1146/annurev.immunol.24.021605.090646
  19. Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009; 4 : 5. https://doi.org/10.1186/1750-1172-4-5
  20. Frattini A, Vezzoni P, Villa A, Sobacchi C. The dissection of human autosomal recessive osteopetrosis identifies an osteoclast-poor form due to RANKL deficiency. Cell Cycle 2007; 6 : 3027-33. https://doi.org/10.4161/cc.6.24.5105