Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless. In most cases it occurs several years before the final diagnosis.
Erdheim-Chester disease is an uncommon kind of non-Langerhans-cell histiocytosis. The disease involves an infiltration of lipid-laden macrophages, multinucleated large cells, an incendiary penetrate of lymphocytes and histiocytes in the ivory marrow, and a generalized sclerosis of the lengthy bones. The disease causes nonspecific disturbances in the function of multiple extraosseous organs, most commonly the eyes, lungs, pituitary gland, and kidneys. Diagnosis is usually made on the basis of radiologic evidence of cortical expansion of long bones.
Erdheim chester syndrome is characterized by a symmetrical sclerosis at the diametaphyseal portions of the lower extremities with extra extraskeletal participation. The symptoms and clinical manifestations bet upon the organ involved. Infiltration of the pituitary stem may head to diabetes insipidus while participation of the lungs may head to disperse pulmonary fibrosis. Knee and leg pain are the most common symptoms and bilateral symmetric sclerosis of metaphyseal region of long bones of the lower extremity is typical. Bone pain is the most frequent of all symptoms associated with erdheim chester syndrome and mainly affects the lower limbs, knees and ankles. The pain is often described as mild but permanent, and juxtaarticular in nature. Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless.
Erdheim chester syndrome is not a popular reason of exophthalmos but can be diagnosed by biopsy. Diabetes insipidus may happen a few years before the new signs. Other neurological manifestations caused by infiltration of dura extending to the falx celebri or tentorium cerebelli were described. Retroperitoneal infiltrate is commonly revealed by abdominal pain or urinary signs. The most specific radiological finding is bilateral and symmetric cortical osteosclerosis. The metaphyseal and diaphyseal regions of the long bones are affected. Nevertheless flat bone involvement and lytic lesions are observed. The vinca alkaloids and anthracyclines have been used most commonly in erdheim chester syndrome treatment. Various treatments have been tried, sometimes improving disease course. Those include corticotherapy, chemotherapy, radiotherapy and some authors suggest interferon alpha.
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