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. Sheets of foamy histiocytes cd68 positive with s 100 protein negative seen in between the bony trabecules. Malaysian orthopaedic journal 2012 vol 6 no 3 koh tw, et al 70 fig. Histiocytes normally function to destroy foreign substances and protect the body from infection. Pulmonary pathology of erdheimchester disease modern pathology. Some of the sites that erdheimchester disease affects include the skeletal system. It is characterized by excessive production and accumulation of specific cells whose normal function is to fight infections.
Erdheimchester disease ecd is a rare form of non langerhans cell histiocytosis. Ecd is characterized by a symmetrical sclerosis at the diametaphyseal portions of the upper and lower extremities with. Furthermore, signs and symptoms of erdheimchester disease may vary on an individual basis for each patient. Systemic fibroinflammatory disorders rare diseases of the immune system. In erdheimchester disease, the excess production of histiocytes histiocytosis leads to inflammation that can damage organs and tissues.
The disease can involve virtually any organ system. Erdheimchester disease with right atrial tumor and temporal arteritis open journal of rheumatology and autoimmune diseases, 2012, 2, 3738. Erdheimchester disease of the central nervous system. It involves the excessive production of histiocytes, which are a type of white blood cell. Erdheimchester disease 30 second awareness video produced by the ecd global alliance. 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. 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 johns. Most of the audience correctly diagnosed erdheimchester disease ecd. 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. Erdheimchester disease is a rare, nonlangerhans cell histiocytosis histologically characterized by multisystemic proliferation of mature histiocytes in a background of. Mazor rd, kesler a, shoenfeld y erdheimchester disease. Statistics of erdheim chester disease 0 people with erdheim chester disease have taken the sf36 survey.
An orphan condition seeking treatment isr med assoc j. The ecd global alliance is dedicated to raising awareness around the world, especially within the medical community. Multisystem radiologic manifestations of erdheimchester. A 61yearold man presented with bilateral exophthalmos and progressive loss of visual function caused by. Erdheimchester disease is a rare, nonlangerhans cell histiocytosis histologically characterized by multisystemic proliferation of mature. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for cd68.
This book provides detailed information on the nosology, pathology, pathogenesis, clinical presentation, diagnosis and treatment of fibroinflammatory disorders, rare diseases that often display. Erdheimchester disease ecd is a rare nonlangerhans cell. Estrada veras, md, clinical investigator and staff clinician at the national human. Orbital involvement is not infrequent and is manifested by exophthalmos and periorbital. 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. Ecd was first described by erdheim and chester in 1930 1. Typically, the diaphyseal and metaphyseal portions of the tubular bones are affected, leading to a characteristic radiographic pattern of bone sclerosis. Erdheimchester disease ecd is a rare, nonlangerhans form of histiocytosis of unknown origin with distinct clinicopathologic and radiographic features. The condition seems to be nonfamilial and typically affects middleaged adults. The multifaceted clinical presentations and manifestations. Involvement of other organs, including the lung, has been reported.
The disease was characterized by proliferation of lipidcontaining foamy histiocytes in the skeleton, especially in the long bones, without visceral involvement. Erdheimchester disease ecd is a systemic nonlangerhans cell histiocytosis of adults that most commonly involves the long bones. These cells normally are responsible for responding to infection and injury. Diabetes insipidus followed, after 4 years, with dysarthria and mild rightsided hemiparesis. Pathologists, among the many other integral specialties, have been an important role in the process of diagnosing erdheim chester disease. The third edition is an easytouse, onestop reference for the most recent clinical, pathological, histological, and. Most patients have bilateral and symmetric sclerotic bone lesions especially involving the. First described in 1930 by william chester as a novel lipogranulomatous disorder, it was later termed erdheimchester disease after the pathologist erdheim. 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. Objectives erdheimchester disease ecd is a rare inflammatory disorder characterised by organ infiltration by nonlangerhans histiocytes. Erdheimchester disease is a rare type of slowgrowing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. While most of the published research on gadolinium has been related to nsf nephrogenic systemic fibrosis and patients with severe renal disease, more recent studies by errante 2014, kanda 20 and xia 2010 have presented evidence of gadolinium retention in patients without severe kidney problems. What is the life expectancy of someone with erdheim.
It may affect the bones, heart, lung, liver, kidneys, retroperitoneum, brain, and, rarely, the orbit. Erdheimchester disease erdheimchester 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. Disease of bone with bilateral symmetric sclerosis of metadiaphyseal region of long bone. Erdheimchester disease is a rare form of multiorgan nonlangerhans cell histiocytosis that affects individuals between the ages of 50 and 70 with an equal distribution among males and females. 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. Erdheimchester disease presenting with pulmonary lesion.
In contrast to langerhans cell histiocytosis lch no s. Erdheimchester disease ecd was first described as the lipoid granulomatose by jakob erdheim and his pupil william chester in 1930. Erdheimchester disease journal of clinical pathology. Erdheimchester disease ecd is a rare nonlangerhans cell histiocytosis that may present with pulmonary symptoms. 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. Erdheim chester disease ecd is a rare nonlangerhans cell histiocytosis that may present with pulmonary symptoms. Erdheimchester disease the journal of rheumatology. It encompasses a spectrum of disorders ranging from asymptomatic bone lesions to multisystemic, lifethreatening variants.
Erdheim chester disease is a rare, nonlangerhans cell histiocytosis histologically characterized by multisystemic proliferation of mature histiocytes in a background of inflammatory stroma. A novel finding in this study was strong factor xiiia immunoreactivity. 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. In contrast to langerhans cell histiocytosis lch no s100 nor cd1 are detected 1, but cd68 is positive 10. Erdheimchester disease is a rare nonlangerhans cell histiocytosis with characteristic radiological and histological features. Erdheimchester disease ecd is a rare multisystem disorder of adulthood. About half of those affected have extraskeletal manifestations, including involvement of the hypothalamuspituitary axis, lung, heart. Erdheimchester disease, or lipid granulomatosis, is a rare disorder characterized by the proliferation of histiocytes in bone and in extraosseous locations. Erdheimchester disease ecd is a rare disease that includes sclerosis in the upper and lower extremities and extraskeletal involvement.
Erdheimchester disease ecd is a rare condition that can affect many parts. Erdheimchester disease ecd is a rare histiocytosis, histologically characterized by xanthogranulomatous inflammation. 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 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. Therefore, close long term followup will be required to evaluate the efficacy of interferon alpha in our patient, and efforts should be made to establish novel. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Although rare, ecd is clearly an overlooked diagnosis. Erdheimchester disease mimicking a primary brain tumor in. It is thought perhaps to be a lipid storage disease, in which foamy lipidladen histiocytes accumulate in the bone marrow. Erdheimchester disease an overview sciencedirect topics.
Radiographic and pathologic changes in the long bones are diagnostic, but patients often present with extraskeletal manifestations. Chest xray showing cardiac involvement 1a, pelvic xray 1b and shoulder xray 1c showing multiple lyticsclerotic lesions. 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. Erdheimchester disease is a rare aggressive histiocytic proliferation with systemic involvement that frequently causes bone lesions with a characteristic radiographic and clinical presentation. The prognosis for patients with this condition is poor. Erdheimchester disease radiology reference article. Erdheimchester disease ecd is a rare systemic histiocytic disease. Erdheimchester disease is a rare form of nonlangerhans cell histiocytosis. The authors present a case report detailing the presentation and treatment of a 26yearold man diagnosed with seizures and a wellcircumscribed temporoparietal mass. Erdheimchester disease ecd is a rare form of histiocytosis of unknown origin characterized by tissue infiltration by lipidladen histiocytes. Frequently asked questions about erdheimchester disease ecd.
Erdheim chester disease nord national organization for. Erdheimchester disease ecd is a rare form of nonlangerhanscell histiocytosis, associated in more than 50% of cases to brafv600e mutations in early multipotent myelomonocytic precursors or in tissueresident histiocytes. It is a nonlangerhans form of histiocytosis, of unknown origin, and is rare. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Erdheimchester disease is an extremely rare disorder that can affect many different organs of the body. Clinical and pathophysiological investigations into. Documentation of the pulmonary pathology is limited to case reports of ecd 1, 5, 6, 7. Erdheim chester disease nord national organization for rare. Erdheimchester disease symptoms histiocytosis association. 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. Journey to erdheimchester diagnosis described in detail. Erdheimchester can involve many different systems in the body and most often affects the long bones. No data specifically addressing the most frequent presentations of ecd at the time of onset in a large cohort of patients are currently available.
Associated symptoms and findings and disease course depend on the. In the majority of patients, orbital infiltration is bilateral. Erdheimchester disease ecd is a variant of histiocytosis that is associated with a braf v600e mutation, which can be detected in. Systemic fibroinflammatory disorders rare diseases of the. Erdheimchester disease genetics home reference nih. Since the expert of the first symptoms the hope of life is a life of 19 months to 5 years, however i read several articles scientific report of some cases of people who have lived up to 30 years with the disease. Diagnostic pathology of infectious disease second edition, 2018. This book provides detailed information on the nosology, pathology, pathogenesis, clinical presentation. Washington the fda today granted a firstever approval for treatment of the rare blood cancer erdheimchester disease ecd, the agency announced. Rare presentation of a rare disease erdheim chester. These cells, which are called histiocytes, infiltrate the loose connective tissue of. Ecd involves xanthomatous or xanthogranulomatous infiltration of tissues by foamy histiocytes, lipid.
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