The radiographic features of familial expansile osteolysis

Skeletal Radiol. 1990;19(4):245-50. doi: 10.1007/BF00191665.


The radiographic features of a unique autosomal dominant bone dysplasia are presented. The features are classified as generalised and/or focal. Generalised features are either altered trabecular pattern or modelling abnormalities. Focal features comprise lytic areas which progressively enlarge, producing expansion of the bone and eventual disintegration due to fibrous and finally fatty replacement of the normal medulla. Almost 90% of these lesions occur in the appendicular skeleton. Clinically, hearing loss is the earliest manifestation of the disease, presenting sometimes as early as 4 years of age. Apical and cervical resorption of teeth is extremely common, resulting in premature loss of teeth. Radiologically, the differential diagnosis refers to Paget's disease, polyostotic fibrous dysplasia, and osteofibrous dysplasia. The progressive destruction of the bone is similar to massive osteolysis (Gorham's disease). The radiographic features in combination with the histopathology render the condition unique.

MeSH terms

  • Adult
  • Bone Diseases, Developmental / complications
  • Bone Diseases, Developmental / diagnostic imaging*
  • Bone Diseases, Developmental / genetics
  • Bone and Bones / diagnostic imaging
  • Deafness / complications
  • Female
  • Humans
  • Male
  • Middle Aged
  • Osteolysis / diagnostic imaging
  • Osteolysis / genetics*
  • Pedigree
  • Radiography