Erdheim-Chester disease: radiographic findings in five patients

We present the case histories of five patients with Erdheim-Chester disease, a rare lipoidosis that has several typical radiographic features. In all the patients, the diaphyses and metaphyses of the extremities demonstrated a symmetric pattern of diffuse or patchy increased density, a coarsened trabecular pattern, medullary sclerosis, and cortical thickening. The epiphyses were spared in four patients and partially involved in one. The axial skeleton was involved in one patient. Radiotracer 99mTc accumulated in areas of radiographic abnormalities in all patients. In one patient, MRI demonstrated an abnormal signal, corresponding to radiographic abnormalities. The signal was hypointense to muscle on T1-weighted sequences and heterogeneously hyperintense and hypointense to normal bone marrow on T2-weighted sequences. Xanthogranulomatous lesions infiltrated the retroperitoneum in one patient, the testes in one patient, the eyelids in one patient, and the orbits in two patients.