Cases reported "Erdheim-Chester Disease"

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11/23. erdheim-chester disease: a case report.

    BACKGROUND: erdheim-chester disease (ECD) is a rare histiocytosis, histologically characterized by xanthogranulomatous inflammation. It may affect the bones, heart, lung, liver, kidneys, retroperitoneum, brain, and, rarely, the orbit. In the majority of patients, orbital infiltration is bilateral. CASE: A 61-year-old man presented with bilateral exophthalmos and progressive loss of visual function caused by chorioretinal folds and papillary swelling due to retrobulbar pseudotumor. The computed tomogram of the abdomen showed retroperitoneal thickening, leading to the interpretation of multifocal fibrosclerosis. This was further substantiated by an orbital biopsy revealing chronic fibrosing inflammation. Retrobulbar radiotherapy (20 Gy) and long-term systemic corticosteroid treatment followed. Although the retroperitoneal involvement decreased, no significant effect on orbital involvement was achieved. A second review of the orbital biopsy revealed foamy cell infiltration and the presence of a sclerotic process. Immunohistochemical examination demonstrated positive CD 68 stains, whereas S-100 and CD 1a were negative, thus confirming ECD. The histologic finding was comparable to a biopsy of the retroperitoneum. Endonasal decompression was performed but visual acuity (VA) decreased to 20/250 in the right eye and on finger counting in the left eye. The patient continues to be under therapy with prednisolone 20 mg/day and methotrexate 25 mg/week. CONCLUSIONS: The clinical orbital manifestation of ECD occurs in two different forms: one presenting as a mild impairment of visual function, while the second, clinical form, observed in our patient, is characterized by a progressive loss of VA despite therapeutic efforts such as immunosuppressive systemic therapy, radiation, and surgery. The described case illustrates that clinical findings in multifocal fibrosclerosis overlap with those observed in ECD.
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12/23. erdheim-chester disease of the breast associated with Langerhans-cell histiocytosis of the hard palate.

    We report a patient with Langerhans-cell histiocytosis (LCH) localized to the hard palate that was later proven to be associated with erdheim-chester disease (ECD), involving the right breast, skeleton, retroperitoneum and left orbit. The diagnosis was based on the symmetric osteosclerosis of the long bones diaphyses (tibias and fibulas), breast lump histopathological/immunohistochemical findings and retroperitoneum and left orbit images in magnetic resonance. Mammary involvement by ECD is an extremely rare condition, which should be differentiated from some benign and malignant mimickers, especially the histiocytoid type of breast carcinoma. Characteristic histological features plus clinical and radiographic information are needed to achieve a correct diagnosis. The ECD, its relation to the LCH and details of the breast lesion are discussed.
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13/23. diagnosis of erdheim-chester disease by using computerized tomography-guided stereotactic biopsy of a caudate lesion. Case report.

    The authors present the case of a 27-year-old woman with erdheim-chester disease (ECD) and extensive intracranial involvement, in whom the initial diagnosis of ECD was established based on computerized tomography (CT)-guided stereotactic biopsy of a caudate lesion. erdheim-chester disease is a rare non-Langerhans cell histiocytosis of unknown origin that is clinically characterized by bone pain, diabetes insipidus, and exophthalmos. The radiological hallmarks of the disease include symmetrical sclerosis of the long bones with epiphysial sparing and increased tracer uptake in lesions seen on scintigraphic imaging. erdheim-chester disease is characterized histologically by the presence of infiltrating lipid-laden histiocytes that commonly involve the retroperitoneum, orbits, skin, pericardium, lungs, and long bones. Although the occurrence of diabetes insipidus often precedes the diagnosis of ECD by more than a decade in most patients, magnetic resonance imaging- and CT-documented central nervous system involvement is exceedingly rare. In the setting of neurological involvement, neurosurgical biopsy has been reported seven times in the literature, with only one of these biopsies being the basis for the initial diagnosis of the disease. The authors' case represents only the second time the disease has been diagnosed by means of neurosurgical biopsy, highlighting the diagnostic difficulties that patients with EDC present. Skeletal radiographs were confirmatory in this case and this modality should be emphasized as the simplest and most direct route to the diagnosis. The degree of neurological involvement further distinguishes the case presented from prior reports in the literature. The multiple bilateral intraaxial lesions were intensely enhancing on contrast CT scans, distributed infra- and supratentorially, involving both white and gray matter, and associated with diffuse cerebral edema. The case presented is also remarkable by virtue of the symmetrical involvement of the caudate nuclei, representing the first such example documented in the literature. The diagnosis, treatment, and outcome in this patient are discussed, and a review of the literature is presented.
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14/23. Familial hemiplegic migraine, neuropsychiatric symptoms, and erdheim-chester disease.

    We report the occurrence of unilateral cerebral hemisphere edema with subsequent cortical laminar necrosis in the setting of familial hemiplegic migraine (FHM) and permanent neurologic sequelae after resolution of an attack in 1 patient. Contemporaneous with this severe attack of FHM, the patient was found to exhibit multiple systemic and neurological symptoms referable to erdheim-chester disease (a rare non-Langerhans cell histiocytosis) that was confirmed by bone biopsy. This case demonstrates the severity possible with a migrainous infarction associated with FHM. The co-occurrence of two such rare entities in 1 patient suggests a possible relationship.
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15/23. erdheim-chester disease versus multifocal fibrosis and Ormond's disease: a diagnostic dilemma.

    AIM: The aim of the study was to evaluate the effectiveness of different imaging techniques with respect to diagnosis and differential diagnosis between erdheim-chester disease (ECD) and multifocal fibrosis (MF)/Ormond's disease (OD). METHOD: Three cases of ECD were included, two of which were misdiagnosed as MF/OD. Findings in different imaging techniques [plain radiography, skeletal scintigraphy, computed tomography (CT) and magnetic resonance imaging (MRI)] of the lower extremities, chest MRI, craniofacial MRI, abdominal CT and MRI) were compared and ranked with regard to diagnostic efficacy. RESULTS: Differentiation between ECD and MF/OD is only possible by imaging the long bones. Bone roentgenograms and skeletal scintigraphy, followed by MRI and CT of the lower extremities are the most effective imaging techniques. CONCLUSION: A low threshold for carrying out plain radiography of the lower limbs in case of RF/MF will increase the number of ECD-cases.
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16/23. Pulmonary and ophthalmic involvement with erdheim-chester disease: a case report and review of the literature.

    erdheim-chester disease is a rare nonfamilial histiocytic disorder of unknown etiology with characteristic long bone findings. The 3-year survival rate for patients with erdheim-chester disease is 50%. Approximately 50% of patients have disease involvement in other tissues, including skin, retro-orbital and periorbital tissues, pituitary-hypothalamic axis, heart, kidney, retroperitoneum, breast, skeletal muscle, and sinonasal mucosa; about 20% of patients have lung involvement. prognosis generally depends on the extent of the extraosseous disease. For patients with lung involvement, gender distribution is equal, but men typically present at an older age than do women. Approximately 80% of patients present with dyspnea, and most patients have diffuse interstitial infiltrates and pleural and/or interlobar septal thickening on chest radiology. Characteristic lung histopathology includes the accumulation of histiocytes with variable amounts of fibrosis and a variable lymphoplasmacytic infiltrate in a lymphangitic distribution. Immunostains are diagnostically useful, showing immunopositivity for CD68 and factor xiiia and immunonegativity for CD1a. Birbeck granules are uniformly absent ultrastructurally.
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17/23. erdheim-chester disease: the effect of bisphosphonate treatment--a case report.

    erdheim-chester disease is a distinctive pathologic and radiographic entity characterized by bilateral symmetric sclerosis of the diametaphyseal regions of long bones and infiltration of foamy lipid-laden histiocytes. It is a rare histiocytic disease of unknown etiology that is characterized pathologically by xanthogranulomatous infiltrates of multiple organs. We present a patient in her early sixties with bilateral mild knee and leg pain. The patient showed a typical bilateral symmetric medullary sclerosis at the diametaphyseal portions of long bones of the lower extremity. The diagnosis was confirmed by a bone biopsy, and bisphosphonate (alendronate, 70 mg/wk) was given to the patient. After 9 months of treatment, biochemical markers of bone turnover, which were high at baseline, decreased to normal ranges. However, the radiographs showed that bone lesions had changed to lytic lesions. We propose use of bisphosphonates, such as alendronate, to decrease the biochemical markers of bone turnover. But we suggest that it is premature to conclude that bisphosphonates have any effect on lytic lesions and the progression of the disease as shown by changes in radiographs. Further studies with long-term follow-up and ultrastructural evaluation are needed.
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18/23. Pulmonary involvement in erdheim-chester disease.

    erdheim-chester disease is a disseminated non-Langerhans' cell histiocytosis involving multiple organs with characteristic sclerotic musculoskeletal lesions. This is the report of the case of a 53-year-old woman with extensive and progressive pulmonary disease. Computed tomography scans revealed diffuse infiltrative lung disease. Thoracoscopic lung biopsy and a biopsy of the right femur lesion were performed. The histopathology revealed that she had non-Langerhans' cell histiocytosis; erdheim-chester disease. The characteristic lesions of erdheim-chester disease, including involvement of the orbit, pericardium, periaorta, and bone were detected. This helped to further confirm that the patient had erdheim-chester disease with associated pulmonary involvement. As erdheim-chester disease is a rare non-Langerhans' cell histiocytosis that may be misdiagnosed as interstitial lung disease or other pulmonary disorders, this diagnosis should be considered in the differential diagnosis of such lung lesions.
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19/23. erdheim-chester disease in a child presenting with multiple jaw lesions.

    BACKGROUND: erdheim-chester disease is a rare histiocytic disease entity related to juvenile xanthogranuloma. It is a systemic condition, usually occurs in adult, characterized by infiltration of foamy histiocytes within the bone and soft tissues. methods AND RESULTS: We report a case of 13-year-old female patient who first presented with multiple osteolytic lesions of the jaws followed by bilateral symmetrical bone lesions affecting the lower extremities, as well as brain and abdominal involvement. Histological findings of the jaw lesions showed lipid-storing CD68 ( ), CD1a (-) histiocytes with Touton type giant cells. CONCLUSION: To the best of our knowledge, this is the first case of erdheim-chester disease with jaw bone lesions occurring as initial presenting symptom.
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20/23. Successful treatment of erdheim-chester disease, a non-Langerhans-cell histiocytosis, with interferon-alpha.

    erdheim-chester disease is a rare non-Langerhans histiocytosis with multisystem involvement. To date, there is no standard treatment for this disorder, and more than half of the patients succumb within 3 years. Because interferon-alpha promotes the terminal differentiation of histiocytes and dendritic cells, we hypothesized that this molecule would be a useful therapy for erdheim-chester disease. We therefore treated 3 patients with advanced disease with interferon-alpha at a starting dose of 3 to 6 x 10(6) units, which was later reduced, during maintenance, to 1 x 10(6) units subcutaneous 3 times per week. Marked improvement was noted in all patients, with substantial retro-orbital disease regression within 1 month. Improvement in bone lesions, pain, diabetes insipidus, and other manifestations was gradual over many months. Responses were durable (3 to 4.5 years). Our observations suggest that this well-tolerated therapy has a significant effect on the course and outcome of erdheim-chester disease.
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