Long bone involvement is almost universal in ECD patients and is bilateral and symmetrical in nature. More than 50% of cases have some sort of extraskeletal involvement. This can include kidney, skin, brain and lung involvement, and less frequently retroorbital tissue, pituitary gland and heart involvement is observed. Bone pain is the most frequent of all symptoms associated with ECD and mainly affects the lower limbs, knees and ankles. The pain is often described as mild but permanent, and in nature. Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless, and in most cases it occurs several years before the final diagnosis. Recurrent pericardial effusion can be a manifestation, as can morphological changes in adrenal size and infiltration. A review of 59 case studies by Veyssier-Belot et al. in 1996 reported the following symptoms in order of frequency of occurrence: * Bone pain * Retroperitoneal fibrosis * Diabetes insipidus * Exophthalmos * Xanthomas * Neurological signs (including ataxia) * Dyspnea caused by interlobular septal and pleural thickening. * Kidney failure * Hypopituitarism * Liver failure
Erdheim–Chester disease
Winchester syndrome
Copenhagen disease
Juvenile idiopathic arthritis
Calcium pyrophosphate dihydrate crystal deposition disease
Rheumatoid nodulosis
Secondary systemic amyloidosis
Reactive arthritis