Skeletal Radiology

, Volume 37, Issue 6, pp 563–567 | Cite as

A case of progressive osseous heteroplasia: a first case in Japan

  • Kenji Kumagai
  • Katsuaki Motomura
  • Masayuki Egashira
  • Masato Tomita
  • Masahiko Suzuki
  • Masataka Uetani
  • Hiroyuki Shindo
Case Report

Abstract

Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNASl gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient.

Keywords

Progressive osseous heteroplasia GNAS1 deletion Radiographic findings Heterotopic ossification 

References

  1. 1.
    Kaplan FS, Shore EM. Progressive osseous heteroplasia. J Bone Miner Res 2000; 15: 2084–2094.PubMedCrossRefGoogle Scholar
  2. 2.
    Kaplan FS, Craver R, MacEwen GD, et al. Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. J Bone Joint Surg Am 1994; 76: 425–436.PubMedGoogle Scholar
  3. 3.
    Schmidt AH, Vincent KA, Aiona MD. Hemimelic progressive osseous heteroplasia. A case report. J Bone Joint Surg Am 1994; 76: 907–912.PubMedGoogle Scholar
  4. 4.
    Eddy MC, Jan De Beur SM, Yandow SM, et al. Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res 2000; 15: 2074–2083.PubMedCrossRefGoogle Scholar
  5. 5.
    Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 2002; 346: 99–106.PubMedCrossRefGoogle Scholar
  6. 6.
    Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G. Osf2/Cbfa1: A transcriptional activator of osteoblast differentiation. Cell 1997; 89: 747–754.PubMedCrossRefGoogle Scholar
  7. 7.
    Yeh GL, Mathur S, Wivel A, et al. GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res 2000; 15: 2063–2073.PubMedCrossRefGoogle Scholar
  8. 8.
    Lietman SA, Ding C, Cooke DW, Levine MA. Reduction in Gs[alpha] induces osteogenic differentiation in human mesenchymal stem cells. Clin Orthop Relat Res 2005; 434: 231–238.PubMedCrossRefGoogle Scholar
  9. 9.
    Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001; 22: 675–705.PubMedCrossRefGoogle Scholar
  10. 10.
    Shore EM, Glaser DL, Gannon FH. Osteogenic induction in hereditary disorders of heterotopic ossification. Clin Orthop 2000; 374: 303–316.PubMedCrossRefGoogle Scholar
  11. 11.
    Ahmed SF, Barr DG, Bonthron DT. GNAS1 mutations and progressive osseous heteroplasia. N Engl J Med 2002; 346: 1669–1670.PubMedCrossRefGoogle Scholar
  12. 12.
    Seror R, Job-Deslandre C, Kahan A. Progressive osseous heteroplasia: a rare case of late onset. Rheumatology 2007; 46: 716–717.PubMedCrossRefGoogle Scholar
  13. 13.
    Urtizberea JA, Testart H, Cartault F, Boccon-Gibod L, Le Merrer M, Kaplan FS. Progressive osseous heteroplasia. Report of a family. J Bone Joint Surg Br 1998; 80: 768–771.PubMedCrossRefGoogle Scholar

Copyright information

© ISS 2008

Authors and Affiliations

  • Kenji Kumagai
    • 1
  • Katsuaki Motomura
    • 2
  • Masayuki Egashira
    • 1
  • Masato Tomita
    • 1
  • Masahiko Suzuki
    • 1
  • Masataka Uetani
    • 3
  • Hiroyuki Shindo
    • 1
  1. 1.Department of Orthopedic Surgery, Graduate School of Biomedical SciencesNagasaki UniversityNagasaki CityJapan
  2. 2.Department of Pediatrics, Graduate School of Biomedical SciencesNagasaki UniversityNagasakiJapan
  3. 3.Department of Radiology, Graduate School of Biomedical SciencesNagasaki UniversityNagasakiJapan

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