Hungarian Radiology

[Melorheostosis Uncommon appearances]

KUTKOWSKA-KAZMIERCZAK Anna1, OBERSZTYN Ewa1, KOZLOWSKI Kazimierz2

DECEMBER 20, 2004

Hungarian Radiology - 2004;78(06)

[INTRODUCTION - Melorheostosis is a rare but well publicised disease. About 320 cases were reported up to 1994. The incidence is estimated 0.9 cases per million. CASE REPORT - We report a 40 year-old man diagnosed with severe melorheostosis and unusual radiographic appearances. No dripping candle wax cortical thickening was present. All the long bones of the upper extremities showed extensive periosteal and endosteal hyperostosis with extension of the changes into the hands and shoulder girdle. Osteosclerosis was present at both sides of the right sacro-iliac joint. There was also hypoplasia of the scapulae, distal ulnae, carpal bones and the left thumb. Distinctive features of the clinical history were that the disease was of prenatal origin. The lower extremities were normal and in spite of extensive bone and soft tissue changes in the upper extremities this patient never experienced pain - a prominent feature of adult melorheostosis. CONCLUSION - Melorheostosis is a rare disorder, diagnosis of which can be made from clinical presentation and radiographs. In case of atypical melorheostosis, the lower extremities may be found to be normal on radiographs. The presentation may be painless.]

AFFILIATIONS

  1. Department of Medical Genetics, Institute of Mother and Child, Warszawa, Poland
  2. Department of Medical Imaging

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