Polyostotic osteolytic dysplasia, hereditary expansile
Alternate names[edit | edit source]
HEPOD; Mccabe disease; Familial expansile osteolysis; FEO; Osteolysis, familial expansile; Expansile osteolysis, familial; EOF
Definition[edit | edit source]
A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.
NIH genetic and rare disease info[edit source]
Polyostotic osteolytic dysplasia, hereditary expansile is a rare disease.
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