Juvenile xanthogranuloma hemophagocytic lymphohistiocytosis erdheimchester disease niemannpick disease seablue histiocyte benign cephalic histiocytosis generalized eruptive histiocytoma xanthoma disseminatum progressive nodular histiocytosis. The infiltration of central nervous system is an independent poor prognosis factor. Files are available under licenses specified on their description page. Retroperitoneal infiltration as the first sign of erdheim chester disease. Treatment of erdheimchester disease with canakinumab. Ecd typically involves bilateral symmetrical cortical osteosclerosis of the diaphyseal and metaphyseal regions in the long bones and infiltration of other organs. Our mission is to champion the prevention, diagnosis, and treatment of chest diseases through education, communication, and research. Elisabeth dion, claire graef, anne miquel, julien haroche, bertrand wechsler, zahir amoura, delphine zeitoun, philippe a. All structured data from the file and property namespaces is available under the creative commons cc0 license. Erdheimchester disease and langerhans histiocytosis.
Physical examination showed bilateral and symmetrical long bone pain, espe cially the knees. Caso clinico specialty hematology langerhans cell histiocytosis lch is a rare disease involving clonal proliferation of langerhans cellsabnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. Erdheim chester 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. To date, no largescale studies have been done on how often lch occurs in. The diagnosis of erdheimchester disease nonlangerhanscell histiocytosis was made and the patient was treated with steroids and methotrexate.
May 24, 2019 recurrent cytogenetic or genomic abnormalities would also be required to demonstrate convincingly that lch is a malignancy. If you have problems viewing pdf files, download the latest version of adobe reader. In rare cases the association of both entities has been reported. Erdheim chester disease ecd is an uncom mon nonlangerhans cell histiocytosis that af fects multiple body systems and can present clinically in a myriad of ways. Anderson cancer center investigational cancer therapeutics phase i program, unit 455 1515 holcombe boulevard houston, texas 77030 augusto vaglio, md. Clinical manifestations vary depending on the organ systems involved. Erdheimchester disease ecd is a rare condition that can affect many parts of the body. Lopez j1, paganini m2, juncosa v1, ballestracci m2. Pericardiocentesis allowed the drainage of 1800 ml of pericardial. A rare multisystem histiocytic disorder associated with interstitial. Langerhans cell histiocytosis micrograph showing a langerhans cell histiocytosis with the characteristic reniform langerhans cells accompanied by abundant eosinophils. Erdheim chester disease ecd is a rare histiocytosis that was recently recognized as a neoplastic disorder owing to the discovery of recurrent activating mapkinase rasrafmekerk pathway mutations. Erdheim chester disease is a systemic nonlangerhans histiocyte infiltration inflicting the heart in 40% to 75% of cases. We report the case of a 29yearold man presented with fever and diffuse bone pain.
The american college of chest physicians chest is the global leader in advancing best patient outcomes through innovative chest medicine education, clinical research, and teambased care. Sep 03, 2018 circulating cells with the ve mutation could be detected in all highrisk patients and in a subset of lowrisk multisystem patients. Chest xray showed pronounced enlargement of the cardiac profile figure 1, and echocardiography demonstrated a marked pericardial effusion figure 2. Aug 15, 2019 when found in the lungs, it should be. Signos neuroradiologicos clasicos en tc y rm craneal. Thirtyfour 85% patients had periaortic infiltration that. Erdheimchester disease ec is a rare form of nonlangerhans cell histiocytosis. It is mostly seen in children under age 2, and the prognosis is poor. Erdheim chester disease ecd, a non langerhans cell histiocytosis of orphan nature and propensity for multisystemic presentations, comprises an intricate medical challenge in terms of diagnosis, treatment and complication management. Erdheimchester disease is a nonlangerhans cell histiocytosis of uncertain origin. The purpose of this study was to evaluate 18 ffdg petct for the diagnosis, management, and treatment of erdheim chester disease ecd. Ecd causes the overproduction of immune cells called histiocytes, which then accumulate in tissues and organs in the body. The discovery of braf mutations and of other map kinase pathway.
Universitari general vall dhebron barcelona barcelona en colaboracion con. The primary presenting feature during the initial stages of erdheimchester 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. Typical findings of ecd include central diabetes insipidus, restrictive pericarditis, perinephric fibrosis, and sclerotic bone lesions. Mutations activating the mapk pathway are found in more than 80% of ecd patients, mainly the braf v600e activating mutation in 5770% of cases, followed by map2k1 in close to 20%. It was declared a histiocytic neoplasm by the world health organization in 2016. Fever of unknown origin as the first manifestation of. It has been diagnosed in children, but it most commonly affects adults. Erdheimchester disease ecd is a rare presentation of nonlang erhans cell histiocytosis, which affects adults that are be tween 50 and 70 years old. For language access assistance, contact the ncats public information officer. Radiologically, the affectation of long bones by symmetrical metadisphysary sclerosis is characteristic. Xantogranuloma necrobiotico con paraproteinemia asociado a.
Read the latest magazines about chester and discover magazines on. Montserrat juanos iborra, albert selva ocallaghan, xavier solanich moreno, antonio vidaller palacin, salvador marti, josep maria grau junyent, miquel vilardell tarres. Imaging findings including periostitis and partial epiphyseal involvement. Parts of the body that may be involved include the long bones, retroperitoneum, skin, eyes and eyelids, lungs. Aug 28, langerhans cell histiocytosis lch is a rare histiocytic disorder most in erdheim chester disease but not in other nonlangerhans cell.
1366 196 849 1468 745 1072 328 801 1492 1438 86 592 273 748 575 1443 846 1060 1146 804 777 509 293 738 843 683 105 661 1055 143 630 1053 1115 1366 224 1482 323 1375 1468 355 896 627 1239 732 1345 1274 165 1132