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    [Clinical and pathological characteristics of Erdheim-Chester disease involving the lungs].
    Zhonghua Jie He He Hu Xi Za Zhi 2017 Aug;40(8):604-610
    Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
    Objective: To explore the clinical manifestations, pathological features, differential diagnosis and gene mutation status in patients with pulmonary involvement of Erdheim-Chester disease (ECD). Methods: The clinical data of 4 cases of Erdheim-Chester disease admitted to Peking Union Medical College Hospital from October 2014 to August 2016 were examined for imaging, microscopic and immunohistochemitry findings, and BRAFV600E mutation. The related literatures were reviewed. Results: Among the 4 cases, there were 3 males and 1 female, aging from 7 to 47 years, and the average age was 34.5 years. They complained of chest tightness, shortness of breath and bone pain. They all had multiple bone lesions, involving the long bones, skulls and vertebrae, and imaging showed increased bone uptake and bone sclerosis. CT scan showed pleural thickening or pleural effusion(4/4), widened lobular septa(3/4), bronchial vascular bundle thickening(3/4), multiple patchy ground glass and solid shadows(4/4), and cystic shadows(1/4). Multiple bone lesions were the main extrapulmonary manifestations. All the cases had multiple bone lesions, involving the long bones, skulls and vertebrae, and showed increased bone uptake and bone sclerosis. Surgical biopsy of the thoracic tissue was performed in all 4 cases (pleural in 1 case, lung in 2, anterior mediastinal mass in 1). Microscopically, the lesion was composed of spindle-shaped fibroblasts and foamy histiocytes enmeshed in reactive fibrous tissue. Lymphocytes and plasma cells were also found. Immunohistochemically, all the histiocytes were positive for CD(68), and none of them expressed CD1a. All cases were detected by real-time quantitative PCR for BRAFV600E gene mutation. Conclusions: The pulmonary involvement of Erdheim-Chester disease is rare, with clinical manifestations of chest tightness, shortness of breath, and some have no obvious respiratory symptoms. Pulmonary involvement in Erdheim-Chester disease has important manifestations, in which foam-like tissue cells with diffuse distribution along the lymphatic enmeshed in reactive fibrous tissue. It should be differentiated from diffuse interstitial lung diseases and metastatic tumors. The clinical features are often manifested as pleural thickening and pleural effusion, with multiple bone sclerosis lesions.BRAFV600E mutation detection is helpful for the diagnosis.

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    Erdheim-Chester disease: clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease.
    Am J Surg Pathol 1999 Jan;23(1):17-26
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
    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. Read More
    [Clinical and pathologic characteristics of Erdheim-Chester disease].
    Zhonghua Bing Li Xue Za Zhi 2014 Dec;43(12):809-13
    E-mail:
    Objective: To explore the clinicopathologic features, immunophenotype, differential diagnosis and gene mutation status of the Erdheim-Chester disease (ECD).

    Methods: Clinical and pathologic findings of 3 ECD cases were examined by gross, microscopic, immunohistochemical methods and BRAF V600E mutation. Related literatures were reviewed. Read More
    (18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease.
    Hell J Nucl Med 2011 Sep-Dec;14(3):311-2
    Nuclear Medicine Unit-Di.M.I.M.P., University of Bari, Piazza G. Cesare, 11, 70124 Bari, Italy.
    Erdheim-Chester disease (ECD), first described by Jakob Erdheim and William Chester in 1930, is a rare form of non-Langerhan's cell histiocytosis with unknown aetiology, is charaterized by systemic xanthogranulomatous infiltrative disease. To date, about 350 cases of ECD have been described in the medical literature. The typical ECD diagnostic triad is bone pain, diabetes insipidus and bilateral exophthalmos. Read More
    Pulmonary involvement with Erdheim-Chester disease: radiographic and CT findings.
    AJR Am J Roentgenol 2000 May;174(5):1327-31
    Department of Diagnostic Radiology, Mayo Clinic, Rochester, MN 55905, USA.
    Objective: We determined the chest radiographic and CT findings of Erdheim-Chester disease with pulmonary involvement.

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