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Systemic non-Langerhans cell histiocytic disorder characterized by development of lipoid granulomas in many organs and tissues of the body. Clinical manifestations range from asymptomatic to fatal multisystem involvement.

Lipid Granulomatosis; Polyostotic Sclerosing Histiocytosis.

First described by the American pathologist William Chester in 1930. Credit was later also given to Chester's mentor during his time in Vienna, the Austrian pathologist Jakob Erdheim, although he was not an author on the paper.

Fewer than 100 cases have been described in the medical literature. Erdheim-Chester disease (ECD) has a male predilection and most often affects adults older than 40 years, although the reported age range is wide.

Etiology is unknown. No genetic basis has been described.

ECD results from infiltration of the bones and other tissues by foamy histiocytes. These histiocytes are derived from monocytes/macrophages, lack intracytoplasmic granules (Birbeck granules), and do not stain positive for S-100 protein, which makes them histologically distinguishable from histiocytes derived from Langerhans cells. (However, researchers now have found extensive S-100-positive staining in some ECD histiocytes, so further evaluation seems necessary.) ECD characteristically affects the long bones symmetrically.

Based on clinical and histopathologic findings. Symmetrical long bone osteosclerosis is the characteristic radiologic finding. However, histologic confirmation is required for the final diagnosis, preferentially from specimens from bone or retrobulbar tissue.

ECD is a systemic, xanthogranulomatous, proliferative, infiltrative disease with foamy (lipid-laden) macrophages/histiocytes of unknown etiology. The signs and symptoms are unspecific and mainly result from the histiocytic infiltration of different tissues. The bones most often affected are the femora, tibiae, and fibulae; humeri, ulnae, and radius are less often involved. The axial skeleton is usually spared. The diaphyses and metaphyses of the long bones are characterized by a diffuse or patchy increase in density, coarsening of the trabecular pattern, medullary sclerosis, and cortical thickening. The epiphyses usually are not affected. The most common presenting features include lower limb pain (knees, ankles), exophthalmos, diabetes insipidus, and general symptoms such as fever and weight loss. Retroperitoneal involvement with paraaortic and perirenal infiltration may cause postrenal obstructive uropathy. Pulmonary interstitial involvement is seen in approximately 35% of cases, with the upper parts of the lungs usually being more severely affected. Pulmonary lesions are characterized by interstitial accumulations of histiocytes and fibrosis in a mainly perilymphangitic and subpleural pattern. Computed tomographic scanning may demonstrate centrilobular nodularity and thickening of the interlobular septa and the visceral pleura. Other nonbony sites affected may include skin (pruritic rash, xanthelasma, periorbital xanthomata), retroorbital tissue (resulting in exophthalmos and rarely blindness), and central nervous system (dural and falcine masses possibly compressing the brain, seizures, dysarthria, cerebellar symptoms such as nystagmus, hypermetric saccades, negative suppression of the vestibuloocular reflex, dysmetria and ataxia, and diabetes insipidus with polyuria and polydipsia from infiltration of the pituitary gland). Pericardial effusion and hepatosplenomegaly have been described. Jaw infiltration (mandibula and maxilla) resulting in periodontitis and loss of teeth ...

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