These cells, which normally help fight infection and injury, then gather in different organs and tissues and can result in a variety of symptoms, including organ failure. Statistics of erdheim chester disease 0 people with erdheim chester disease have taken the sf36 survey. The condition seems to be nonfamilial and typically affects middleaged adults. T2 clinical and pathologic spectrum of four cases from the arkadi m. Washington the fda today granted a firstever approval for treatment of the rare blood cancer erdheimchester disease ecd, the agency announced. Erdheim chester disease is a rare systemic nonlangerhans histiocytosis of unknown etiology that affects multiple organ systems. Structural pathology in a rodent model of osteoarthritis is associated with. See some of the causes of erdheim chester disease according to people who have experience in erdheim chester disease.
In order of frequency, it also occurs in the kidney, retroperitoneum, skin, brain, lung, tissue behind the eyes, pituitary gland, and heart. Pulmonary pathology of erdheimchester disease modern. The multifaceted clinical presentations and manifestations. Ecd is usually diagnosed on the basis of characteristic. Review of the literature yielded a total of seven patients with increased signal intensities on t2weighted images in both. Erdheimchester disease genetics home reference nih. These cells, which are called histiocytes, infiltrate the loose connective tissue of the body. Firstever fda approval for erdheimchester disease medpage. Oct 15, 2010 erdheimchester disease is characterized by long bone pain and symmetric sclerosis of the diametaphyseal portions of the long bones. Erdheim chester composite the ecd global alliance is dedicated to raising awareness around the world, especially within the medical community.
Furthermore, signs and symptoms of erdheimchester disease may vary on an individual basis for each patient. Erdheimchester disease is a rare, noninherited disease of middle age with a slight male predominance 6. Erdheim chester disease is a rare aggressive histiocytic proliferation with systemic involvement that frequently causes bone lesions with a characteristic radiographic and clinical presentation. Pituitary pathology in erdheimchester disease springerlink. A 61yearold man presented with bilateral exophthalmos and progressive loss of. Diffuse reduction of cerebral grey matter volumes in. Erdheimchester disease ecd is a rare condition that can affect many. In 1930 chester, working with the viennese pathologist erdheim, described two patients with an unusual lipidosis showing distinctive bone changes.
Jun 25, 2004 erdheim chester disease ecd is a rare histiocytosis, histologically characterized by xanthogranulomatous inflammation. Erdheim chester disease is an extremely rare disorder that can affect many different organs of the body. Sorensen 1964 described one patient with similar radiographic appearances and bone histology, and a fourth case was added by jaffe 1972 who designated the condition erdheimchester disease. Multimodality imaging showing complete cardiovascular. It was declared a histiocytic neoplasm by the world health organization in 2016. Erdheimchester disease ecd is a multisystem nonlangerhans form of cell histiocytosis. It is an important differential diagnosis of sclerotic disease of the bones. These unusual lesions remained enhanced on magnetic resonance images obtained 8 days after injection of gadolinium. Leenknegt, benjamin, julie dutoit, and koenraad verstraete. Nov 06, 2017 washington the fda today granted a firstever approval for treatment of the rare blood cancer erdheim chester disease ecd, the agency announced. Erdheimchester disease is an extremely rare disorder that can affect many different organs of the body. Erdheim chester disease excessive production of histiocytes, a wbc that fights infections and injury, then collect in different organs and tissues can lead to organ failure not categorized as a cancer, immune disorder, or infection a proliferation of histiocytes. Erdheimchester disease an overview sciencedirect topics. Another patient with recently diagnosed skeletal erdheim chester disease and concomitant lung involvement was included from an outside institution.
In 1930, chester working with erdheim described a lipidosis which he distinguished from other lipogranulomatoses chester, 1931. Erdheimchester disease as a mimic of igg4related disease. Lesional cells are generally positive for cluster of. In erdheimchester disease, the excess production of histiocytes histiocytosis leads to inflammation that. Aug 06, 2018 erdheim chester disease ecd is a rare condition that can affect many parts of the body. About half of those affected have extraskeletal manifestations, including involvement of the hypothalamuspituitary axis, lung, heart. Histiocytic infiltration leads to xanthogranulomatous infiltrates of multiple organ systems. Erdheimchester disease ecd is a rare, nonlangerhans histiocytosis described by jakob erdheim and william chester in 1930. Erdheim chester can involve many different systems in the body and most often affects the long bones. Erdheim chester disease presenting with pulmonary lesion. Erdheimchester ecd is an orphan disease included in the spectrum of systemic nonlangerhans cell histiocytosis with frequent recurrent braf. Erdheimchester disease ecd is an extremely rare and aggressive form of non langerhans cell histiocytosis. Diffuse reduction of cerebral grey matter volumes in erdheim.
Erdheimchester disease ecd is a rare nonlangerhans cell histiocytosis that may present with pulmonary symptoms. Cutaneous manifestations of erdheimchester disease ecd. Compared with classic xanthelasma palpebrarum, ecd xll pathology more frequently. It may affect the bones, heart, lung, liver, kidneys, retroperitoneum, brain, and, rarely, the orbit. Erdheimchester disease ecd is a systemic non langerhans. A case report of an erdheimchester patient focused on pain. Orbital involvement is not infrequent and is manifested. Erdheimchester disease ecd was first described as lipoid granulomatose by jakob erdheim and william chester in 1930 1. Erdheimchester disease, moving away from the orphan diseases. Erdheimchester disease is a rare, nonlangerhans cell histiocytosis histologically characterized by multisystemic proliferation of mature histiocytes in a background of inflammatory stroma. 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. Erdheimchester disease is a rare nonlangerhans cell histiocytosis with characteristic radiological and histological features. Erdheimchester disease ecd is a rare histiocytosis, histologically characterized by xanthogranulomatous inflammation. It is characterized by excessive production and accumulation of specific cells whose normal function is to fight infections.
Excellent response of intramedullary erdheimchester. Erdheim chester disease ecd is a rare form of histiocytosis of unknown origin characterized by tissue infiltration by lipidladen histiocytes. Erdheimchester disease, moving away from the orphan. Erdheimchester disease ecd is a rare histiocytic disorder of unknown etiology that involves predominantly bone and viscera. Erdheim chester disease is a systemic lipogranulomatous disorder with infiltration by lipidladen histiocytes foamy macrophages, touton giant cells and a variable amount of background fibrosis 2.
Cns infiltration occurs in one third of patients, but cognitive changes are common in patients without cns disease. Erdheimchester disease radiology reference article. Objectives erdheimchester disease ecd is a rare inflammatory disorder characterised by organ infiltration by nonlangerhans histiocytes. About half of those affected have extraskeletal manifestations, including involvement of the. Erdheimchester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multi organ involvement. Pathologists, among the many other integral specialties, have been an important role in the process of diagnosing erdheim chester disease. Most of the audience correctly diagnosed erdheimchester disease ecd.
Erdheimchester disease is characterized by long bone pain and symmetric sclerosis of the diametaphyseal portions of the long bones. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases. More than 500 affected individuals worldwide have been described in the medical literature. Erdheimchester disease is a rare nonlangerhans cell, nonfamilial multisystemic histiocytosis, with widespread manifestations and of highly variable severity. Erdheimchester disease and other histiocytoses springerlink. We report here the histologic and immunohistochemical findings in the autopsy obtained pituitary of a 35yrold woman with extensively disseminated erdheimchester disease. It involves the excessive production of histiocytes, which are a type of white blood cell. Erdheimchester disease is a rare systemic nonlangerhans histiocytosis of unknown etiology that affects multiple organ systems. Erdheimchester disease ecd is a rare form of non langerhans cell histiocytosis originally described as lipid granulomatosis in 1930 by jakob erdheim and william chester.
Erdheim chester disease ecd is a rare type of histiocytosis disease that involves an excessive production and accumulation of a certain type of white blood cells histiocytes in many different organs of the body. Erdheim chester disease ecd is an extremely rare but increasingly recognized form of nonlangerhans cell histiocytosis, of which approximately 600 cases have been reported in the literature. Review of the literature yielded a total of seven patients with increased signal. It commonly presents in adults in their 50s to 70s with a slight male predominance. A 61yearold man presented with bilateral exophthalmos and progressive loss of visual function caused by. Erdheimchester disease is a rare aggressive histiocytic proliferation with systemic involvement that frequently causes bone lesions with a characteristic radiographic and clinical presentation. Through a search of the pathology databases of four italian hospitals, we identified six men mean age, 56 years with a histological diagnosis of ecd. In addition, there is an absence of birbeck granules contrary to langerhans. The disease was characterized by proliferation of lipidcontaining foamy histiocytes in the skeleton, especially in the long bones, without visceral. Erdheimchester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multiorgan involvement. This nonlangerhans histiocytosis of unknown origin is rare, with less than cases as of december 2015 25.
Erdheimchester disease is a rare histiocytosis characterized by multisystemic organ involvement. A case of erdheimchester disease with intracerebral masses containing characteristic lipidladen histiocytes is presented. As of present time, only several hundred cases had been documented in the medical literature 1, the majority of which were described in the past ten years 2. Erdheimchester disease associated with retroperitoneal. Erdheimchester disease ecd is a rare, nonlangerhans form of histiocytosis of unknown origin with distinct clinicopathologic and radiographic features. Erdheimchester disease ecd is a rare nonlangerhans cell histiocytosis characterized. Clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease. Pituitary morphologic changes in patients with erdheim chester disease have not been described in detail.
Radiographic and pathologic changes in the long bones are diagnostic, but patients often present with extraskeletal manifestations. No data specifically addressing the most frequent presentations of ecd at the time of onset in a large cohort of patients are currently available. Erdheim chester disease ecd or nonlangerhans cell histiocytosis is a rare histiocyte cell disorder with approximately 750 reported cases in the literature since its initial description approximately 85 years ago. This signs and symptoms information for erdheimchester disease has been gathered from various sources, may not be fully accurate, and may not be the full list of erdheimchester disease signs or erdheimchester disease symptoms. Erdheimchester disease presenting as malignant exophthalmos. Most patients have bilateral and symmetric sclerotic bone lesions especially involving the long bones of the lower limbs. Erdheimchester disease excessive production of histiocytes, a wbc that fights infections and injury, then collect in different organs and tissues can lead to organ failure not categorized as a cancer, immune disorder, or infection a proliferation of histiocytes. Clonal cytogenetic abnormalities in erdheimchester disease. Jakob erdheim, pathologist, collector, scientist and educator was born in 1874 in galicia and received his medical degree from the university of vienna in 1900. Histiocytes normally function to destroy foreign substances and protect the body from infection. Erdheimchester disease is a rare form of nonlangerhans cell histiocytosis. Erdheim chester disease ecd is a rare nonlangerhans histiocytic disorder most commonly characterized by multifocal osteosclerotic lesions of the long bones demonstrating sheets of foamy histiocytes on biopsy, with or without histiocytic infiltration of extraskeletal tissues.
Request pdf clonal cytogenetic abnormalities in erdheimchester. Fourteen patients with erdheim chester disease were identified by searching our institutions computerized medical records database and crossindexing tissue pathology and medical records. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. The median age of diagnosis is 53 years, with few cases reported in children. Jaffe 1972 reported a similar case which he called erdheimchester disease. He became interested in pathology and joined the pathology institute of the municipal hospital lainz of vienna figure 1. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. The posterior lobe was completely replaced by xanthogranulomatous infiltrates. Erdheimchester disease ecd or nonlangerhans cell histiocytosis is a rare histiocyte cell disorder with approximately 750 reported cases in the literature since its initial description approximately 85 years ago.
Erdheim chester disease is a rare form of nonlangerhans cell histiocytosis. These cells normally are responsible for responding to infection and injury. Typically, the diaphyseal and metaphyseal portions of the tubular bones are affected, leading to a characteristic radiographic pattern of bone sclerosis. In contrast to langerhans cell histiocytosis lch no s100 nor cd1 are detected 1, but cd68 is positive 10. Consensus guidelines for the diagnosis and clinical. Cerebral involvement is most often caused by extraaxial masses of foamy histiocytes, whereas intraparenchymal manifestations are less frequent. Erdheimchester disease was first reported in1930, only 320 cases reported in the literature. Erdheimchester disease ecd is a rare nonlangerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system cns, bones, and retroperitoneum. In the majority of patients, orbital infiltration is bilateral. Erdheim chester disease nord national organization for. Erdheim chester disease ecd is a rare nonlangerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system cns, bones, and retroperitoneum. Erdheimchester disease symptoms histiocytosis association. Erdheimchester disease ecd is a rare form of histiocytosis of unknown origin characterized by tissue infiltration by lipidladen histiocytes. Erdheim chester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multiorgan involvement.
Historically, ecd has been considered a variably aggressive histiocytic disorder. Become ambassador and add your answer erdheim chester disease causes. Although ecd was first described in 1930, it stayed under the radar until 1996, and it was not until 2005 that the first treatment, interferon alpha, was offered to patients, said juvianee i. Orbital involvement is not infrequent and is manifested by exophthalmos and periorbital. We report here the histologic and immunohistochemical findings in the autopsy obtained pituitary of a 35yrold woman with extensively disseminated erdheim chester disease. The median age of diagnosis is 53 years, with few cases reported in. Histopathologic features of ecd include foamy or granular histiocytes with welldefined borders, toutontype giant cells, lymphocytes, and scattered plasma cells with surrounding fibrosis. Erdheimchester disease may be associated with other histiocytic neoplasms, including langerhans cell hisitocytosis and rosaidorfman disease which should be confirmed by biopsy in the setting of atypical clinical manifestations blood 2020 mar 18 epub ahead of print, blood 2014. Erdheim chester disease may be associated with other histiocytic neoplasms, including langerhans cell hisitocytosis and rosaidorfman disease which should be confirmed by biopsy in the setting of atypical clinical manifestations blood 2020 mar 18 epub ahead of print, blood 2014. Broad extraskeletal manifestations, including fever, weight loss, weakness, exophthalmos, diabetes insipidus, dysuria, abdominal pain, obstructive renal impairment, ataxia and paresis interstitial lung disease in 35% of patients with histiocytic cells and fibrosis seen in a predominantly perilymphangitic and subpleural pattern.
It has been diagnosed in children, but it most commonly affects adults. The posterior lobe was completely replaced by xanthogranulomatous infiltrates, providing an explanation for the. Erdheimchester disease ecd is a systemic nonlangerhans cell histiocytosis of adults that most commonly involves the long bones. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for cd68. Ecd was first described by erdheim and chester in 1930 1.
First described by william chester in 1930, erdheim chester disease ecd is a rare systemic disease characterized by xanthogranulomatous infiltration of the bones and organs by nonlangerhans foamy histiocytes. Estrada veras, md, clinical investigator and staff clinician at the national human. Histology was performed on retroperitoneal or pulmonary biopsy. Erdheimchester disease ecd is a rare form of nonlangerhans cell. Ecd causes the overproduction of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Although rare, ecd is clearly an overlooked diagnosis. Pituitary morphologic changes in patients with erdheimchester disease have not been described in detail. Treatment with the brafinhibitor vemurafenib has recently produced substantial improvement in three patients with. Erdheimchester disease ecd is a rare nonlangerhans histiocytic disorder most commonly characterized by multifocal osteosclerotic lesions of the long bones demonstrating sheets of foamy histiocytes on biopsy, with or without histiocytic infiltration of extraskeletal tissues. Erdheimchester disease is a rare type of slowgrowing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Erdheimchester disease presenting with pulmonary lesion. Erdheim chester disease ecd is a rare, nonlangerhans histiocytosis described by jakob erdheim and william chester in 1930. Erdheimchester can involve many different systems in the body and most often affects the long bones. 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.
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