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


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.


Progressive osseous heteroplasia GNAS1 deletion Radiographic findings Heterotopic ossification 


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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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