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)

Erdheim-Chester disease (ECD) is characterized by lipid granuloma in the long tubular bones, which leads to pathognomonic symmetrical sclerosis of their metaphyses and diaphyses. Lipid granuloma may also be present in numerous other mesenchymal tissues, especially lung, orbit and retroperitoneal space. The clinical course and prognosis of the disease depend on these lesions. Reviewing 30 cases published since 1931 and a personal case with S100 positive cells, we present the typical radiological and clinical findings. There is striking resemblance to chronic disseminated histiocytosis X.
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PMID:[Erdheim-Chester disease]. 188 72

Histiocytic tumors of the orbit comprise an unusual group of lesions characterized by the infiltration of the orbital tissues by xanthomatous cells. Recently, there have been a number of new observations regarding the various histiocytic tumors that can affect the orbit. The condition previously referred to as histiocytosis X is believed to represent a proliferation of Langerhans cells and the term Langerhans cell histiocytosis is often used instead of histiocytosis X. Juvenile xanthogranuloma has been demonstrated to affect the orbit without involving the skin or the iris. The Erdheim-Chester disease is a condition of adults characterized by infiltration of bone, retroperitoneum, heart, lungs and other tissues by xanthoma cells. This condition has recently been recognized to produce a classic ophthalmological picture of bilateral xanthelasmas and bilateral proptosis. The authors review their personal experience with several patients with histiocytic tumors of the orbit and stress the clinical spectrum of these conditions.
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PMID:Clinical spectrum of histiocytic tumors of the orbit. 208 89

The authors report on 21 cases of "primary" xanthoma of bone. Twenty of the patients were older than 20 years old. The male-female ratio was 2:1. The presenting symptom was pain in 13 patients and neurologic symptoms in 2; in 6 patients, the lesion was an incidental finding. All but one of the lesions in this series were solitary, and the flat bones (pelvis, rib, skull) were the most frequently involved sites. Radiographically, a well-defined, sometimes expansile lytic lesion, with either a small area of surrounding reactive bone or a distinct sclerotic margin, was seen. Microscopically, foam cells, giant cells, cholesterol clefts, and fibrosis were present in varying degrees. In none of these cases was there an identifiable underlying lesion. The differential diagnosis includes Erdheim-Chester disease (a multisystemic granulomatosis) and bone involvement in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). More important is the differential diagnosis with metastatic clear cell carcinoma. Xanthoma of bone is a benign lesion, and complete or even partial removal is effective. Xanthomas may represent a "burnt-out" benign condition such as fibrous dysplasia or histiocytosis X.
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PMID:Xanthoma of bone. 314 Jun 52

The ophthalmological changes in two patients with Erdheim-Chester disease are described. These consist of exophthalmos, ophthalmoplegia, xanthelasma, optic disc swelling, blindness due to optic atrophy, retinal striae, and bilateral enhancing orbital masses on CT scan. The clinical and histopathologic findings of Erdheim-Chester disease are reviewed and the manifestations in two patients with orbital change are presented. This is believed to be the first report describing the ophthalmological manifestations of Erdheim-Chester disease. Our observations support the view that Erdheim-Chester disease is unrelated to the histiocytosis X group.
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PMID:Orbital manifestations of Erdheim-Chester disease. 667 81

Erdheim-Chester disease is an endogenous, non-genetically-determined lipidosis characterized by infiltrates of foamy, lipid-laden histiocytes and by bilateral symmetric foci of sclerosis in appendicular long bones. The clinical spectrum ranges from focal bone lesions to systemic disease with life-threatening visceral involvement. In one third of patients, roentgenograms show focal osteolysis within areas of sclerosis. Authors report a new case of Erdheim-Chester disease documented by two bone biopsies in different sites. Features in their patient included: 1) osteolysis and sclerosis of the long bones of the limbs and maxillas, with CT scan evidence of cortical rupture; 2) on magnetic resonance imaging studies, heterogeneous foci of decreased signal intensity on T1 images and heterogeneous areas of moderately increased signal intensity on T2-weighted images; 3) increased serum osteocalcin levels; 4) laboratory evidence of chronic inflammation with no extraosseous manifestations. The clinical, radiological, and pathological features of Erdheim-Chester disease are different from those of Langerhans cell histiocytosis. However, three cases of patients with both conditions have been reported in the literature, suggesting that there may be links between the two diseases.
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PMID:[Erdheim-Chester disease: report of a case, review of the literature and discussion of the relation to Langerhans-cell histiocytosis]. 801 36

A case of Erdheim-Chester disease which affected the epiphysis and showed evidence of systemic disease is presented. Clinical and histopathological similarities with other forms of disseminated Langerhans' cell histiocytosis are noted, particularly reaction of infiltrating histiocytes for S100 and HLA-DR.
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PMID:Erdheim-Chester disease with epiphyseal and systemic disease. 832 Mar 35

This report describes a 47-year-old man with Erdheim-Chester disease (EC), the second case reported in Japan. The patient complained of knee pain, and the roentgenogram of the bilateral legs revealed symmetric osteolytic lesions with sclerosis of the metaphyseal regions of the long bones. Histological examination of the biopsy specimen showed a xanthogranulomatous lesion consisting of aggregations of foamy macrophages and Touton-type giant cells. Immunohistochemical study of the foamy cells in the lesion showed positive reaction to anti-Kp-1, anti-S-100 alpha, beta, anti-neuron-specific enolase (NSE), anti-alpha-1-antichymotrypsin, anti-alpha-1-antitrypsin, and anti-lysozyme antibodies. Electron microscopy showed many lipid droplets in the cytoplasm, but no Langerhans granules. These results suggested that the disease was part of the spectrum of histiocytosis but was different from Langerhans cell histiocytosis. Biochemical analysis of material extracted from a lesion showed the predominance of cholesterol ester. The disease progressed to central diabetes insipidus, and the involvement of multiple organs was indicated by a magnetic resonance image.
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PMID:Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. 854 20

We made a retrospective evaluation of clinical and radiologic features, treatment, and outcome of Erdheim-Chester disease, a rare non-Langerhans cell histiocytosis. We had 7 patients coming from 3 French teaching hospitals and reviewed 52 cases from the literature. These cases were considered to have Erdheim-Chester disease when they had either typical bone radiographs (symmetrical long bones osteosclerosis) and/or histologic criteria disclosing histiocytic infiltration without features for Langerhans cell histiocytosis (no S-100 protein, no intracytoplasmic Birbeck granules). Ages at diagnosis ranged from 7 to 84 years (mean +/- SD = 53 +/- 14 yr) with a male/female ratio of 33/26. Bone pain was the most frequent clinical sign (28/59), mostly located in the lower limbs. Exophthalmos and diabetes insipidus were found in respectively 16/59 and 17/59 patients. General symptoms (fever, weight loss) and "xanthomas" (mainly located on the eyelids) were present in 11/59 patients. Retroperitoneal involvement was found in 17/59 patients. Skeletal X-ray showed typical osteosclerosis of the diaphysis of the long bones in 45/59 patients. Bone radiographs showed osteolytic lesions of the flat bones (skull, ribs) in 8 patients. Histologic diagnosis was performed after a bone biopsy (28 patients), a retroorbital biopsy (9 patients), and/or a biopsy of the retroperitoneal infiltration or the kidney (11 patients). Six of our 7 patients but only 5 of 52 patients from the literature had the complete histologic criteria, disclosing no Birbeck granules or S-100 immunostaining. In other cases, histologic results usually described a xanthogranulomatous infiltration by foamy histiocytes nested in fibrosis. Treatment was corticotherapy (20/59), chemotherapy (8/59), radiotherapy (6/59), surgery (3/59) and immunotherapy (1 patient). Twenty-two patients died after a mean follow-up of 32 +/- 30 mo (range, 3-120 mo). In conclusion, Erdheim-Chester disease may be confused with Langerhans cell histiocytosis as it sometimes shares the same clinical (exophthalmos, diabetes insipidus) or radiologic (osteolytic lesions) findings. However, it also appears to have distinctive features. Patients are older and have a worse prognosis than those with Langerhans cell histiocytosis, and the diagnosis relies on the association of specific radiologic and histologic findings.
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PMID:Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. 1169 22

Erdheim-Chester disease is a form of Histiocytosis which involves the adults and is distinct from Histiocytosis X. It is characterized by a constant diaphyseal and metaphyseal bone involvement predominating in the lower links. The diagnosis can readily be envisaged when the typical radiological findings are present. Bone involvement may be isolated and well tolerated, or can be associated with systemic involvement and a severe prognosis. We describe three cases of women aged 46, 50 and 73 years. One patient presented with isolated bone lesions, while the two others had a multiorgan localization. From the three cases and from an extensive review of the literature, we describe the spectrum of bone and visceral lesions that can be seen by imaging. The emphasis is put on lesions of the skeletal system, the retroperitoneum, the nervous system, and the pericardium. Furthermore, the relationships between Erdheim-Chester disease and Histiocytosis X are discussed.
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PMID:[Imaging of Erdheim-Chester disease]. 903 81

We report a patient with eosinophilic granuloma localized to the left mandible who was subsequently shown to have Erdheim-Chester disease involving the lower extremities, omentum and lung. The diagnosis of eosinophilic granuloma was based on the presence of typical CD1a+ Langerhans' cell granulomas in a biopsy of mandible. The diagnosis of Erdheim-Chester disease was established on the basis of the pattern of radioisotopic uptake by long bones, seen on a technetium bone scan, and the presence of characteristic histopathological features in biopsies of lung and peritoneum. The pathological findings in lung were compatible with the abnormalities observed by tomodensitometry, but strikingly different from those seen in Langerhans' cell granulomatosis. The differences in the histological features of pulmonary involvement seen in the two diseases, and the possible relationship between Langerhans' cell granulomatosis and Erdheim-Chester disease, are discussed.
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PMID:Erdheim-Chester disease with prominent pulmonary involvement associated with eosinophilic granuloma of mandibular bone. 914 84


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