Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven cases of breast involvement by extranodal Rosai-Dorfman disease are presented. The patients were women and their ages ranged from 15 to 84 years. Three patients had disease confined to the breast; one had involvement of the breast and ipsilateral axillary lymph nodes, and two had bilateral breast involvement as well as disseminated systemic disease. In all cases the clinical and radiographic presentation of the breast lesion raised the possibility of a malignant tumor. All but one of the lesions were treated by excisional biopsy. Microscopically, the lesions were relatively circumscribed, often multinodular masses, located in the breast stroma, with or without associated involvement of the subcutaneous tissue and dermis. They were composed of sheets of S-100 protein-positive large histiocytes displaying lymphocytophagocytosis, scattered in a polymorphous background of mature lymphocytes and plasma cells. The microscopic differential diagnosis includes idiopathic granulomatous mastitis, infective granulomas, Langerhans' cell histiocytosis, Erdheim-Chester disease, fibrous histiocytoma, and malignant melanoma.
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PMID:Breast involvement by extranodal Rosai-Dorfman disease: report of seven cases. 1007 33

Erdheim-Chester disease is a clinicopathologic entity defined by a characteristic pattern of symmetric osteosclerosis caused by an infiltrate of mononuclear cells that include prominent numbers of foamy histiocytes. About half of patients have extraskeletal manifestations, including involvement of the hypothalamus/posterior pituitary, orbit, retroperitoneum, skin, lung, and heart. Pulmonary involvement is an uncommon but important manifestation of Erdheim-Chester disease because it causes significant morbidity and mortality. A review of the Mayo Clinic files produced four patients with confirmed Erdheim-Chester disease in whom lung biopsy had been performed. One additional patient was included from the University of Pittsburgh. Four patients were women. The mean age was 53.6 years (range 25-70 years). All patients had bilateral and symmetric sclerotic bone lesions characteristic of Erdheim-Chester disease, although in three the skeletal abnormalities were discovered only after lung biopsy. Four patients had dyspnea, and one also had a dry cough. One patient died 17 months after diagnosis. Chest radiographs showed diffuse interstitial infiltrates in all patients, with an upper zone predominance in three. Thoracic computed tomography (CT) scans showed thickening of the visceral pleura and interlobular septa with patchy associated fine reticular and centrilobular opacities and ground glass attenuation. Lung biopsy specimens showed an infiltrate of foamy histiocytes, lymphocytes, and scattered Touton giant cells with associated fibrosis in a striking lymphatic distribution. The infiltrate involved visceral pleura, interlobular septa, and bronchovascular bundles. Immunohistochemical stains were positive for CD68 in all cases and S-100 protein in four cases. Stains for CD1a were consistently negative. Ultrastructural studies in one case showed no Birbeck granules. Although in bone the histologic features of Erdheim-Chester disease may overlap with Langerhans' cell histiocytosis, its expression in the lung is distinct. Lung involvement in Erdheim-Chester disease has emerged as a unique radiographic and histologic entity.
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PMID:Erdheim-Chester disease: clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease. 988

Erdheim-Chester disease is a rare multisystem disease in which a progressive xanthogranulomatous infiltration of several tissues can be seen. We describe a woman, known to have diabetes insipidus for ten years, with periorbital, retroperitoneal, mediastinal, axillar and inguinal involvement. On histological examination a granulomatous infiltration of fatty tissue and striated muscle was seen, consisting of Touton giant cells, histiocytes with foamy cytoplasm and lymphocytes. Immunohistochemical staining with CD-1a and S-100 was negative and on electron microscopy no Langerhans granules were seen. These findings led to the diagnosis of Erdheim-Chester disease. She had a good response on steroids. Because of some similar clinical features of Langerhans cell histiocytosis and Erdheim-Chester disease, a histiocyte disorder seems the most probable cause.
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PMID:A patient with diabetes insipidus and periorbital swellings; Erdheim-Chester disease. 1047 76

Erdheim-Chester (EC) disease is a rare pathological entity with a highly specific and characteristic pattern of radiographic bone changes. Histologically it resembles Langerhans cell histiocytosis (LCH), and it is still a matter of discussion whether EC disease is a distinct entity or a type of LCH. In this study, 3 cases of Erdheim-Chester disease were followed up over years and examined in detail both radiologically and immunohistochemically. All 3 cases showed the pathognomonic skeletal features for EC disease as well as an identical immunohistochemical phenotype quite different from LCH. Macrophages and Touton cells reacted strongly positive with the histiocytic marker CD 68, whereas staining with S100 and CD1a, markers for Langerhans cells, were negative. Both the immunohistochemical phenotype and the bone changes were clearly distinct from LCH.
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PMID:Erdheim-Chester disease: evidence for a disease entity different from Langerhans cell histiocytosis? Three cases with detailed radiological and immunohistochemical analysis. 1087 68

Erdheim-Chester disease (ECD) is a rare non-Langerhans' cell histiocytosis that may present with pulmonary symptoms. The condition seems to be nonfamilial and typically affects middle-aged adults. Radiographic and pathologic changes in the long bones are diagnostic, but patients often present with extraskeletal manifestations. Advanced pulmonary lesions are associated with extensive fibrosis that may lead to cardiorespiratory failure. The clinical, radiologic, and pathologic features of six patients with ECD with lung involvement are presented. The patients were three men and three women (mean age, 57). Five presented with progressive dyspnea, and one presented with diabetes insipidus. Open-lung biopsies showed histiocytic infiltrates in a lymphangitic pattern with associated fibrosis and lymphoplasmacytic inflammatory infiltrates. The histiocytes did not stain with periodic acid-Schiff. Immunoperoxidase studies performed on specimens from five of six patients showed that the histiocytes were positive for CD68 and Factor XIIIa and negative for CD1a. Specimens from two patients exhibited immunoreactivity for S-100 protein. Electron microscopy studies performed on specimens from two patients showed phagocytic lysosomes but no Birbeck granules. Clinical follow-up of up to 16 years was available. At the end of that time, five patients were dead of complications related to their disease; one patient remains alive 4 years after diagnosis but with severe respiratory compromise. ECD is a rare non-Langerhans' cell histiocytosis that may present as interstitial lung disease and resemble other pulmonary conditions, particularly usual interstitial pneumonitis and pulmonary Langerhans' cell histiocytosis. Recognition of this entity will allow better assessment of its true incidence, therapeutic options, and prognosis.
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PMID:Pulmonary pathology of Erdheim-Chester disease. 1091 34

Erdheim-Chester disease is a rare systemic lipogranulomatous disorder of adults that shares some histopathologic features similar to Langerhans' cell histiocytosis and that results in characteristic radiographic changes in the long bones. Relatively few cases have been reported in the jaws. We present a literature review of jaw cases and the first case report to describe detailed radiographic and pathologic features of jaw involvement, as well as clinical, radiographic, and histopathologic follow-up of the untreated jaw lesions.
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PMID:Erdheim-Chester disease of the jaws: literature review and case report. 1098 64

Erdheim-Chester disease (ECD) is a rare multisystem histiocytosis syndrome of unknown cause that usually affects adults. Histiocytic infiltration of multiple end organs produces bone pain, xanthelasma and xanthoma, exophthalmos, diabetes insipidus, and interstitial lung disease. Differential diagnosis includes Langerhans cell histiocytosis, metabolic disorders, malignancy, and sarcoidosis. ECD can be diagnosed using a combination of clinical and histopathologic findings. Sites of involvement include lung, bone, skin, retroorbital tissue, central nervous system, pituitary gland, retroperitoneum, and pericardium. Symmetrical long bone pain with associated osteosclerotic lesions, xanthomas around the eyelids, exophthalmos, and/or diabetes insipidus suggest ECD. Approximately 35% of patients have associated lung involvement, characterized by interstitial accumulations of histiocytic cells and fibrosis in a predominantly perilymphangitic and subpleural pattern. This pattern distinguishes ECD from other histiocytic disorders involving the lung. The diagnosis is confirmed by tissue biopsies that contain histiocytes with non-Langerhans cell features. In general, the clinical course of patients with this disease varies, and the prognosis can be poor despite treatment. Clinical trials for treatment of ECD have not been conducted and treatment is based on anecdotal experience.
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PMID:Erdheim-Chester disease: a rare multisystem histiocytic disorder associated with interstitial lung disease. 1120 82

A 63-year old man had a history of diabetes insipidus, arthralgias and myalgias, weight loss, relapsing fever and malaise. Increased uptake of Tc-99m was found predominantly in distal antebrachia, in distal femurs and in both trochanters and tibias on the bone scintigraphy. The chest radiograph showed reticulonodular pattern and the high resolution computed tomography (HRCT) scans revealed diffuse infiltrative lung disease with small multiple nodules and widening of interlobular septs. Videothoracoscopic lung biopsy and biopsy of tibial lesion were perfomed. The histopathologic examination proved non-Langerhans cell histiocytosis-Erdheim-Chester disease. Treatment with prednisone reduced the pain and fever and improved the vital capacity of the lungs while the changes in the lungs and bones remained unchanged.
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PMID:Erdheim-Chester disease. A case report. 1149 97

Erdheim-Chester disease is a rare form of non-Langerhans' cell histiocytosis. This disorder is characterized by a bone involvement and several extraskeletal manifestations. We describe the case of a patient with a pleural and pericardial effusion leading to tamponade. Pathological examination of pericardium and mediastinal adenopathy was normal. The abdominal computed tomography scan showed two enlarged kidneys suggestive of Erdheim-Chester disease. Bone scan scintigraphy demonstrated symmetrical increased labeling of the long bones. The biopsy of perirenal soft tissue confirmed the diagnosis of Erdheim-Chester disease.
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PMID:Two enlarged kidneys: a manifestation of Erdheim-Chester disease. 1150 4

Erdheim-Chester disease (ECD) and Langerhans' cell histiocytosis (LCH) are rare granulomatosis-like diseases of unknown etiology which are characterized by lipoidgranulomatous infiltrates in various organs. Contrary to LCH, endocrine and cerebral lesions were infrequently observed in ECD. We report on a patient with the clinical diagnosis of ECD displaying endocrine and cerebral manifestations and skeletal, pulmonary and soft tissue involvement. Disturbance of the endocrine system was revealed by enlargement of the pituitary, partial deficiency of growth hormone (GH), hyperprolactinemia and testosterone deficiency. Cerebral involvement included sinus vein thrombosis, pathologic acoustic evoked potentials, persistence of gadolinium enhancement after magnetic resonance imaging and hypomania. These findings emphasize the importance to assess endocrine and cerebral function in patients with rare granulomatous diseases like ECD and multiorgan involvement.
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PMID:Psychoneuroendocrine disturbances in a patient with a rare granulomatous disease. 1214 90


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