Pituitary pathology in erdheimchester disease springerlink. Objectives erdheimchester disease ecd is a rare inflammatory disorder characterised by organ infiltration by nonlangerhans histiocytes. 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. Ecd causes the overproduction of immune cells called histiocytes, which then accumulate in tissues and organs in the body. The disease was first described in the medical literature in 1930 by the austrian pathologist jakob erdheim, and the american pathologist william chester lipoid granulomatosis. 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. Clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease.
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. It has been diagnosed in children, but it most commonly affects adults. In order of frequency, it also occurs in the kidney, retroperitoneum, skin, brain, lung, tissue behind the eyes, pituitary gland, and heart. The authors present a case report detailing the presentation and treatment of a 26yearold man diagnosed with seizures and a wellcircumscribed temporoparietal mass that had been demonstrated on imaging studies.
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. 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. Pdf pathology of histiocytic disorders and neoplasms and related disorders. 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, multisystem nonlangerhans. Clinical and pathophysiological investigations into. Furthermore, signs and symptoms of erdheimchester disease may vary on an individual basis for each patient. Statistics of erdheim chester disease 0 people with erdheim chester disease have taken the sf36 survey.
Erdheimchester disease presenting with cutaneous involvement. Erdheimchester disease ecd is a rare, systemic, nonfamilial histiocytic disorder, first described by jakob erdheim and william chester in 1930. Erdheimchester disease is a rare nonlangerhans cell histiocytosis with characteristic radiological and histological features. Consensus guidelines for the diagnosis and clinical. Hammar, sanja dacic, in diagnostic immunohistochemistry third edition, 2011. Chestererdheim disease has been reported in 40 cases 29, and special mention of neurologic involvement has been described in 8 cases 8. Erdheimchester disease ecd is a rare condition that can affect. Limited information is available regarding interstitial lung disease ild in erdheimchester disease ecd, a rare multisystemic nonlangerhans cell histiocytosis. It was declared a histiocytic neoplasm by the world health organization in 2016. Erdheim chester disease ecd is a rare non langerhans cell histiocytosis that may present with. 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 ecd is a systemic nonlangerhans cell histiocytosis of adults that most commonly involves the long bones. Erdheim chester diseasean unusual presentation of a rare.
The multifaceted clinical presentations and manifestations of. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. 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. Frequently asked questions about erdheimchester disease. Pituitary morphologic changes in patients with erdheim chester disease have not been described in detail.
A case of erdheimchester disease which affected the epiphysis and showed evidence of systemic disease is presented. Diffuse reduction of cerebral grey matter volumes in. Erdheimchester disease is a rare, nonfamilial, histiocytic disorder identified by william chester in 1930 that primarily affects middleaged and older adults, predominantly involving long bones of the extremities. Erdheimchester disease with epiphyseal and systemic. Estrada veras, md, clinical investigator and staff clinician at the national human. Pituitary morphologic changes in patients with erdheimchester disease have not been described in detail. Erdheimchester disease is an extremely rare disorder that can affect many different organs of the body. Typically, the diaphyseal and metaphyseal portions of the tubular bones are affected, leading to a characteristic radiographic pattern of bone sclerosis. Ecd cells stains positively for the same proteins as jxg, that is cd68 and factor xiiia. Histologically, it is categorized as a nonlangerhans cell histiocytosis, and most commonly occurs in men between the ages of 50 and 70, although cases have been. 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. Erdheimchester disease is a form of nonlangerhans histocytosis, generally presenting in the fifth through seventh decades of life.
Cns infiltration occurs in one third of patients, but cognitive changes are common in patients without cns disease. In these cases, the diagnosis of ecd is based on histopathology and other. Rare and potentially lethal, erdheimchester disease ecd is a histiocytic neoplasm about which little is known, and for which there remains a paucity of effective treatments. Frequently asked questions about erdheimchester disease ecd. Unlike lch, the cells in erdheim chester disease do not have birbeck granules or stain positively for something called the s100 antigen or cd1a. Although heterogeneity is the rule in the clinical presentation of patients with erdheimchester disease ecd, some manifestations should be regarded as diagnostic triggers of this condition. These cells normally are responsible for responding to infection and injury. Fourteen patients with erdheim chester disease were identified by searching our institutions computerized medical records database and crossindexing tissue pathology and medical records. Erdheim chester disease ecd is a rare, potentially fatal multiorgan myeloid. These cells, which are called histiocytes, infiltrate the loose connective tissue of the body. The braf inhibitor vemurafenib is approved by the u. Erdheimchester disease mimicking a primary brain tumor in. Erdheimchester disease is a rare aggressive histiocytic proliferation with systemic involvement that frequently causes bone lesions with a characteristic radiographic and clinical presentation.
Its prompt preoperative recognition and evaluation of all the involved systems is the key to successful perioperative outcome. This disease is sometimes mistaken for langerhans cell histiocytosis, and a thorough workup including biopsy is. Erdheim chester disease nord national organization for. We read with interest the excellent study published by cavalli et al1 in annals of the rheumatic diseases and wish to voice our concerns. Because it is so rare, erdheimchester disease is often difficult to diagnose. Pulmonary pathology of erdheimchester disease modern. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases.
The multifaceted clinical presentations and manifestations. More than 500 affected individuals worldwide have been described in the medical literature. Erdheim chester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multiorgan involvement. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for cd68. Once the diagnosis is made, the extent of disease should be established. The posterior lobe was completely replaced by xanthogranulomatous infiltrates, providing an explanation for the. Consensus guidelines for the diagnosis and clinical management of.
Diagnostic pathology of infectious disease second edition, 2018. Most patients have bilateral and symmetric sclerotic bone lesions especially involving the long bones of the lower limbs. In contrast to langerhans cell histiocytosis lch no s100 nor cd1 are detected 1, but cd68 is positive 10. The posterior lobe was completely replaced by xanthogranulomatous infiltrates. Saavedra1 1department of pathology, brigham and womens hospital, harvard medical school, boston, ma, usa 2division of medical genetics. Erdheimchester disease 30 second awareness video produced by the ecd global alliance. 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 is an extremely rare disorder that can affect many different organs of the body. Erdheim chester disease ecd is a rare nonlangerhans cell histiocytosis that may present with pulmonary symptoms. William chester and his tutor, the viennese pathologist jakob erdheim, in 1930. Erdheimchester disease and other histiocytoses springerlink. This nonlangerhans histiocytosis of unknown origin is rare, with less than cases as of december 2015 25. We report here the histologic and immunohistochemical findings in the autopsy obtained pituitary of a 35yrold woman with extensively disseminated erdheim chester disease. Orbital involvement is not infrequent and is manifested by exophthalmos and periorbital. Histology microscopic environment non langerhans histiocytes with foamy or. 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. Sixtytwo biopsyconfirmed ecd patients were divided into those with no ild 19. Erdheimchester disease ecd is a rare, nonlangerhans histiocytosis described. Erdheim chester disease presenting with pulmonary lesion. Clinical and pathophysiological investigations into erdheim. Washington the fda today granted a firstever approval for treatment of the rare blood cancer erdheimchester disease ecd, the agency announced.
Ecd was first described by erdheim and chester in 1930 1. We report here the histologic and immunohistochemical findings in the autopsy obtained pituitary of a 35yrold woman with extensively disseminated erdheimchester disease. 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. Erdheimchester disease radiology reference article. In erdheimchester disease, the excess production of histiocytes histiocytosis leads to inflammation that can. Erdheim chester disease ecd is a rare, nonlangerhans histiocytosis. Erdheimchester disease an overview sciencedirect topics. Erdheimchester disease is a rare type of slowgrowing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. 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. Disease of bone with bilateral symmetric sclerosis of metadiaphyseal region of long bone. Clinical and histopathologic features of interstitial lung. Erdheimchester can involve many different systems in the body and most often affects the long bones.
Sep 08, 20 erdheim chester disease ecd is a rare form of non langerhans cell histiocytosis originally described as lipid granulomatosis in 1930 by jakob erdheim and william chester. Recent findings suggest that ecd is a clonal disorder, marked by recurrent brafv600e mutations in 50% of patients, in which chronic uncontrolled inflammation is an important mediator of disease pathogenesis. Clinical and histopathological similarities with other forms of disseminated langerhans cell histiocytosis are noted, particularly reaction of infiltrating histiocytes for s100 and hladr. Most patients have multiple sites of involvement at presentation. About half of those affected have extraskeletal manifestations, including involvement of the hypothalamuspituitary axis, lung, heart. Erdheimchester disease ecd was first described as lipoid granulomatose by jakob erdheim and william chester in 1930 1. Although rare, ecd is clearly an overlooked diagnosis. 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. The condition seems to be nonfamilial and typically affects middleaged adults. Dec 28, 2018 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. Erdheimchester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multi organ involvement.
Most of the audience correctly diagnosed erdheim chester disease ecd. Ecd is usually diagnosed on the basis of characteristic. About half of those affected have extraskeletal manifestations, including involvement of the. Pdf erdheimchester disease ecd is a rare form of non langerhans cell. Erdheimchester disease is a systemic lipogranulomatous disorder with infiltration by lipidladen histiocytes foamy macrophages, touton giant cells and a variable amount of background fibrosis 2. 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. Journey to erdheimchester diagnosis described in detail. Erdheimchester disease annals of the rheumatic diseases. Erdheimchester disease ecd is a rare systemic histiocytic disease. Most of the audience correctly diagnosed erdheimchester disease ecd. It commonly presents in adults in their 50s to 70s with a slight male predominance. Histiocytes normally function to destroy foreign substances and protect the body from infection.
Because this disease occurs rarely and has a broad spectrum of clinical manifestations, it is easily misdiagnosed. Erdheimchester disease ecd is a rare form of histiocytosis of unknown origin characterized by tissue infiltration by lipidladen histiocytes. The disease was characterized by proliferation of lipidcontaining foamy histiocytes in the skeleton, especially in the long bones, without visceral. Erdheim chester disease ecd is a rare form of histiocytosis of unknown origin characterized by tissue infiltration by lipidladen histiocytes. Pulmonary pathology of erdheimchester disease article pdf available in modern pathology 7. Aug 06, 2018 erdheim chester disease ecd is a rare condition that can affect many parts of the body. T2 clinical and pathologic spectrum of four cases from the arkadi m. Tissue pathway for nonneoplastic thoracic pathology pdf source. Background erdheimchester disease ecd is a rare, nonlangerhans cell histiocytosis. Another patient with recently diagnosed skeletal erdheim chester disease and concomitant lung involvement was included from an outside institution. It is characterized by excessive production and accumulation of specific cells whose normal function is to fight infections. In order to finalize a diagnosis of ecd, a histopathological confirmation is necessary. Erdheim chester disease is a form of nonlangerhans histocytosis, generally presenting in the fifth through seventh decades of life. Erdheim chester ecd is an orphan disease included in the spectrum of systemic nonlangerhans cell histiocytosis with frequent recurrent braf.
Erdheimchester disease symptoms histiocytosis association. Mediastinal pathology wdt, armed forces institute of pathology, washington, d. Patients may go for months and even years after symptoms start until they are properly diagnosed. Results for erdheim chester disease 1 9 of 9 sorted by relevance date click export csv or ris to download the entire page or use the checkboxes to select a subset of records to download. Erdheimchester disease genetics home reference nih.
Erdheim chester can involve many different systems in the body and most often affects the long bones. Erdheimchester disease presenting with pulmonary lesion. World toxicity experience with brafmek inhibitors in. Erdheim chester disease is a rare aggressive histiocytic proliferation with systemic involvement that frequently causes bone lesions with a characteristic radiographic and clinical presentation. Erdheimchester disease ecd is an extremely rare nonlangerhans form of histiocytosis, characterized by xanthomatous tissue infiltration with foamy cd68cd1a histiocytes. We report three women with chestererdheim disease who had worked in the textile industries in the northoffrance. Erdheimchester disease is a rare, nonlangerhans cell histiocytosis histologically characterized by multisystemic proliferation of mature histiocytes in a background of inflammatory stroma. This is an erdheimchester disease 20 minute film showing 4 different patients and providing information about ecd. For more information please see film produced by the. Firstever fda approval for erdheimchester disease medpage. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Erdheim chester disease erdheim chester disease ecd is a variant of histiocytosis that is associated with a braf v600e mutation, which can be detected in the lesion or the patients blood. Erdheimchester disease ecd is a rare, nonlangerhans cell histiocytosis of unknown etiology, characterized by multiorgan involvement.
1427 265 397 42 259 1495 231 1360 803 294 540 37 1523 664 389 30 763 262 1285 1476 846 1288 317 1500 1432 713 1094 136 460 503 1034 986 1454 113 504 1042 1380 1281 472 531 141 459 223 905 264 1037