2. Academic Validation
  3. Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic

Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic

  • J Med Imaging Radiat Oncol. 2016 Jun;60(3):370-3. doi: 10.1111/1754-9485.12355.
Dean Grant Topham 1,  Matthew John Sampson 2 3
Affiliations

Affiliations

  • 1 Department of Medical Imaging, Flinders Medical Centre, Adelaide, South Australia, Australia.
  • 2 Benson Radiology, Adelaide, South Australia, Australia.
  • 3 Department of Medical Imaging, Repatriation General Hospital, Adelaide, South Australia, Australia.
PMID: 27258166 DOI: 10.1111/1754-9485.12355
Abstract

We report a case of familial expansile osteolysis (FEO) with multimodality imaging findings and histopathological correlation in a 42-year-old man presenting to a South Australian Emergency Department. FEO is a unique metabolic bone condition that is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified as a separate disease process. It is inherited in an autosomal dominant pattern and typified by increased osteoclast activity, medullary expansion, and hearing and dental problems. These changes can lead to significant morbidity with individuals affected suffering from bone pain and pathological fractures. To the best of the authors' knowledge, there are no reported cases in the literature documenting this disease in Australia.

Keywords

bone dysplasia; familial expansile osteolysis; imaging features; scintigraphic features; skeletal deformity.

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