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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) are both exceedingly rare histiocytic proliferations that can involve the skeletal system. We report on a case of ECD with some features suggestive of LCH. Radiographs demonstrated a large lytic lesion in the left femur, with multiple lesions of sclerosis involving both distal femurs and tibias. Both the lytic lesion and a sclerotic lesion were biopsied and demonstrated distinctive histologic features characteristic of ECD in the tibia and features of LCH in the femur. The clinical/radiologic and pathologic features that distinguish ECD and LCH as distinct entities are reviewed, and the underlying biological connection between them is discussed.
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PMID:An unusual case of Erdheim-Chester disease with features of Langerhans cell histiocytosis. 1749 45

Erdheim-Chester disease is a non-Langerhans cell histiocytosis, classically thought to be rare, but diagnosed more frequently nowadays (250 published cases). Histiocytes of Erdheim-Chester disease are positive for CD68 but not for CD1a, contrary to Langerhans cell histiocytosis. Two signs highly evocative of this diagnosis are nearly constant tracer uptake by the long bones on (99)Tc bone scintigraphy and a "hairy kidney" appearance on abdominal CT scan. A more "elegant" diagnostic method is ultrasound-guided biopsy of the perirenal infiltration. Cardiovascular involvement, which affects the aorta ("coated aorta") as well as all the cardiac layers, leads to one third of the deaths related to this disease. Central nervous system infiltration (especially cerebellar) is severe and difficult to treat. The prognosis is extremely variable and is often worse when there is a cardiovascular and/or central nervous system involvement. The treatment, decided upon on a case-by-case basis at a specialist center, often begins with interferon alpha.
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PMID:[Erdheim-Chester disease]. 1761 76

Pulmonary lesions encountered by the pathologist in which histiocytes are the dominant finding histologically are reviewed. Lesions discussed include neoplasms of histiocytes and nonneoplastic processes. The nonneoplastic processes are divided into those that present as nodular histiocytic proliferations in the lung, those that present as diffuse proliferations of histiocytes in the lung, and those with a mixed pattern. Entities discussed include pulmonary Langerhans' cell histiocytosis, pneumonoconioses, infections, diffuse panbronchiolitis, crystal storing histiocytosis, respiratory bronchiolitis, alveolar hemorrhage, eosinophilic pneumonia, obstructive pneumonia, exogenous lipoid pneumonia, some drug reactions, and some metabolic/storage diseases. Entities of uncertain histogenesis, including Rosai-Dorfman disease and Erdheim-Chester disease, are also discussed. Qualitative features of the histiocytes are addressed, including the presence of foreign dust, hemosiderin, foamy change, and histiocytes showing features of Langerhans' cells.
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PMID:Histiocytic lesions and proliferations in the lung. 1788

Erdheim-Chester disease (ECD) is a granulomatous and infiltrative disorder of unknown etiology with proliferation of cholesterol-containing histiocytes and peculiar bone involvement. It is very similar to Langerhans cell histiocytosis (LCH) on histology but with a different immunohistochemical profile. This is the first report of intraocular involvement in this disease. MPSG, a 46 y.o. woman, presented with proptosis of the OD. She referred ulcerated lesions on the hard palate, symmetrical and bilateral osteosclerosis of the fibulae and tibiae and a nodule in the right breast (biopsy: xantomatous histiocytic infiltrate CD68+, S-100 and CD1a negative on immunohistochemistry compatible with ECD). MRI studies demonstrated an extraconal tumor in the juxta-bulbar temporal portion of the right orbit close to the lacrimal gland and hyperintense on T1. Vision was 20/20 OU, with numerous drusen in the posterior pole, similar to basal laminar drusen. Two regions of orange subretinal infiltrates that showed progressive staining on the angiogram were seen in the peripapillary region and also close to the fovea in the OD. Choroidal neovascular membranes were seen 2 years later in OU leading to severe visual loss in the OS and to a slight visual field loss in the OD, which retained 20/20 vision. This pioneer report depicts in vivo characteristics of histiocytic granulomas in ECD. Caution should be taken with patients with ECD as potentially blinding intraocular complications may arise.
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PMID:[Intraocular involvement in Erdheim-Chester disease--first report in the literature: case report]. 1815 16

Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis usually affecting bone, that may progress to multi-organ involvement, with pulmonary involvement as an indicator of poor prognosis. Herein, we present a 48-year-old man with a 2-year history of progressive exertional dyspnoea, dry cough, malaise and exophthalmos. High-resolution computed tomography showed peripheral interstitial thickening with a lymphangitic distribution throughout both lungs, suspected of representing lymphangitic spread of neoplasia. Transbronchial biopsy specimen and bronchoalveolar lavage were non-diagnostic; thus, a surgical lung biopsy was performed which showed features diagnostic of ECD. Subsequent systematic investigations showed widespread bone involvement, cardiac involvement manifested as left heart failure and renal/perirenal disease. Treatment with pulsed corticosteroids and cyclophosphamide elicited neither clinical nor functional response, with death at 6 months. This case highlights the aggressive nature of ECD when there is pulmonary involvement, as well as problems in diagnosis when there is pulmonary presentation and when systemic disease is asymptomatic.
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PMID:Erdheim-Chester disease: pulmonary presentation in a case with advanced systemic involvement. 1846 Aug 66

Erdheim-Chester disease is a rare noninherited, non-Langerhans' cell histiocytosis, with multiorgan involvement. The skeleton is frequently involved in as many as 70-80% of all cases. In nearly half of the cases, there is an involvement of other organs such as the cardiovascular system, lung, kidneys, brain, and orbits. Extra-skeletal involvement is correlated with increased morbidity and mortality. In recent years, the disease is being described with increasing frequency although fewer than 200 cases have been identified worldwide. Besides its rarity, the disease has a characteristic almost pathognomonic bone scan appearance, which in some cases facilitates diagnosis of the syndrome. Bone scans also contribute to the qualitative assessment of skeletal involvement.
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PMID:Erdheim-Chester disease: a rare syndrome with a characteristic bone scintigraphy pattern. 1853 84

The term histiocytosis covers various disorders that lead to primary proliferation, infiltration and accumulation of cells of the mononuclear-phagocytic system within the affected tissues. Its pathophysiology is still unclear and the clinical course variable, which explains the lack of specific treatment and the need for a high level of suspicion to arrive at the diagnosis. The authors present the case of a patient with a complex cardiological clinical history, recently referred for surgical treatment of severe mitral insufficiency. Severe thickening of both atrial walls made it impossible to proceed with the intervention. After a complex etiological evaluation, a diagnosis of Erdheim-Chester disease was made. This is a rare, non-Langerhans cell histiocytosis and, to our knowledge, this represents the first case reported in Portugal. The authors also review the literature, particularly of the few cases with cardiac involvement.
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PMID:A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease. 1871 19

A 60-year-old man with progressive gait ataxia and mild pyramidal signs showed at MRI a pontine lesion with post-contrast enhancement in the left middle cerebellar peduncle. Diagnosis of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, was suggested, further supported by a previously diagnosed retroperitoneal fibrosis. X-ray films demonstrated characteristic bilateral and symmetric osteosclerosis of the long bones of the lower limbs, which at radionuclide studies exhibited a marked increase in technetium-99 uptake. A cerebral 18FDG-PET showed a relevant pontine uptake of the tracer. Re-evaluation of a past retroperitoneal biopsy showed an intense CD68+, CD1a-, and S100- infiltrate of histiocytes with foamy cytoplasm, thus confirming the diagnosis. ECD should be regarded as a rare cause of adult-onset sporadic ataxia, especially when pontine lesions and extraneurological manifestations are present.
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PMID:Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease. 1881 Jun 2

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis characterized by xanthomatous tissue infiltration with foamy histiocytes. It is still controversial whether these histiocytic proliferations represent monoclonal neoplastic populations or are part of a polyclonal reactive process. This is a case report of ECD in a 76-year-old Chinese woman. We investigated the clinicopathological features and clonality of the histiocytes using laser microdissection and a clonality assay based on X-chromosomal inactivation mosaicism in female somatic tissues, as well as on the polymorphism of phosphoglycerate kinase (PGK) and androgen receptor (AR). According to our results, the lesion was composed of lipid-laden histiocytes and focal fibrous tissues. The lipid-laden histiocytes were positive for CD68 and CD163, but negative for CD1a and S-100. Electron-microscopic examination showed no Birbeck granules, but the presence of lipid vacuoles. Moreover, the result of the clonality assay demonstrated that these cells formed a polyclonal population. In conclusion, ECD is a rare non-Langerhans' cell histiocytosis. Its nature may be a non-neoplastic lesion; however, additional studies with larger sample sizes are necessary to conclusively prove our hypothesis.
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PMID:Clonal status and clinicopathological feature of Erdheim-Chester disease. 1933 22

Erdheim-Chester disease (ECD) is a rare proliferative non-Langerhans cell histiocytosis of multiple organs with unknown etiology. Around 20% of ECD cases are reported to be associated with lung involvement and there are very few cases manifested solely by nonspecific respiratory symptoms. A 50-year-old woman presented with dry cough and dyspnea for 2 weeks. Chest computed tomography (CT) revealed diffuse interlobular septal and fissural thickening with perilymphatic and subpleural nodular opacities, suggesting pulmonary lymphangitic spread of metastatic carcinoma. Bone scintigraphy and positron emission tomography/CT showed multiple skeletal and lymph node involvement. The patient underwent surgical lung biopsy and the pathologic feature was consistent with ECD. We describe this case to emphasize that ECD should be included in the differential diagnosis of cases suspected to have lymphangitic lung carcinomatosis. Moreover, the findings of positron emission tomography/CT scan, which showed hot uptakes in the affected areas, are also described.
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PMID:Erdheim-Chester disease with lung involvement mimicking pulmonary lymphangitic carcinomatosis. 1936 81


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