Figure 1
From: A FKBP5 mutation is associated with Paget’s disease of bone and enhances osteoclastogenesis
Typical images of bone lesions in the proband and within the pedigree of the studied family. (a) Digital radiography (DR) of the proband’s skull shows thickening of the outer and inner plates of the cranial bones and a ‘cotton wool’ appearance caused by irregular areas of sclerosis. (b) CT bone scanning of the skull shows confirmed bone expansion, cortical bone thickening, widening of the diploё, and irregular areas of sclerosis (the white arrows indicate irregular areas of sclerosis). (c) Radiography of the proband’s pelvis shows mixed areas of lucency and sclerosis and a trabecular pattern of coarsening and accentuation, as well as thickening of the femoral cortices. (d) DR image of the affected humerus shows marked cortical bone thickening and expansion. (e) Pedigree of the affected family. Squares denote male members, and circles represent female members. The symbols crossed by oblique lines represent deceased family members. The black solid symbols indicate affected family members, and gray solid symbols represent offspring who harbor the FKBP5 missense mutation. The dark arrow indicates the proband of this pedigree.
