It has been diagnosed in children, but it most commonly affects adults. Ecd causes the overproduction of immune cells called histiocytes, which then accumulate in tissues and organs in the body. It was declared a histiocytic neoplasm by the world health organization in 2016. Incidental diagnosis of erdheimchester disease in a patient with unusual presentation abstract erdheimchester disease ecd is a rare presentation of nonlang erhans cell histiocytosis, which affects adults that are between 50 and 70 years old. Erdheimchester disease is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages technically, this disease is termed a nonlangerhanscell histiocytosis. Aug 06, 2018 erdheim chester disease ecd is a rare condition that can affect many parts of the body. The erdheimchester disease is a rare presentation of nonlangerhans cell histiocytosis. Retroperitoneal infiltration as the first sign of erdheim. Erdheimchester disease ecd is a rare condition that can affect many parts of the body. For language access assistance, contact the ncats public information officer.
If you have problems viewing pdf files, download the latest version of adobe reader. The primary presenting feature during the initial stages of erdheim chester disease is severe bone pain following histiocyte cells infiltration of bone marrow, especially in the bones of the lower extremities to include the feet and the knees. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. We report a case of an elderly man with bladder cancer, in whom the first manifestation of erdheimchester disease was retroperitoneal infiltration detected during routine followup. Spontaneous bilateral pneumothoraces in erdheimchester.
The clinical manifestations are heterogeneous due to histiocytic infiltration of multiple systems. The disease was diagnosed on the basis of histology and immunochemistry findings presence of histiocytes and of imaging findings plain radiography, computed tomography. Incidental diagnosis of erdheim chester disease in a patient with unusual presentation abstract erdheim chester disease ecd is a rare presentation of nonlang erhans cell histiocytosis, which affects adults that are between 50 and 70 years old. When there is skeletal involvement, it produces bone pain, and may be associated with interstitial, heart, liver, kidney. Parts of the body that may be involved include the long bones, retroperitoneum.
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