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Familial expansile osteolysis: An A ustralian case report of a P aget's D isease M imic
Author(s) -
Topham Dean Grant,
Sampson Matthew John
Publication year - 2016
Publication title -
journal of medical imaging and radiation oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.31
H-Index - 43
eISSN - 1754-9485
pISSN - 1754-9477
DOI - 10.1111/1754-9485.12355
Subject(s) - medicine , osteolysis , medullary cavity , pathological , disease , radiological weapon , osteoclast , pathology , radiology , receptor
Summary 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 S outh A ustralian E mergency D epartment. 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 A ustralia.