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

Over a period of 18 years, 17 patients with proven Langerhans cell histiocytosis (LCH) were treated at the Haematological Clinic in Brno. In 13 of them, the disease was diagnosed at adult age, and 4 patients were referred to the centre with LCH diagnosed at early child age. One of these 4 patients suffered from repeated recurrences of the disease at adult age and was diagnosed with progressive neurodegenerative damage of the CNS at the age of 25 which in its terminal phase resulted in the patient's immobility, loss of sphincter control, incapacity to communicate and death at the age of 32. LCH was diagnosed at adult age in 13 patients. The form with primary bone involvement was detected in 8 out of 13 patients (62%). Only 2 of 13 patients (15%) had multiple bone lesions upon diagnosis, the remaining 6 patients (46%) had only one lesion at the time of diagnosis. Repeated recurrence of bone involvement was only recorded in 3 out of 13 patients (23%). The combination of recurrent bone involvement and the development of lung affection (dyspnoea, irritating cough, nodularities and cysts in HRCT images) were documented in 2 out of 13 patients (15%). One of the patients diagnosed with LCH at the age of37 had repeated recurrence of bone involvement, which was also treated by 2 cycles of high-dose chemotherapy and autologous transplantation. He died of bronchopneumonia due to the affection of the lungs by LCH at 48 years of age. Primary extraoseal (extamedular) involvement was diagnosed in 5 out of 13 patients (38%) (mandibular gum infiltration, single cervical node infiltration, hand skin infiltration, infiltration of the perineal region and infiltration of the hypophysial infundibular and primary lung form of LCH). In the 1st case, excision was the solution applied to the infiltration of the lingual side ofthe gums, without further recurrence. In the 2nd case, the infiltrated region of skin over the metacarpophalangeal joint was irradiated and the infiltration disappeared. In the 3rd case, the first sign ofthe disease was diabetes insipidus in a 34-year-old man, and an infiltrate in the anal region similar to condylomata acuminata. The diagnosis was confirmed 2 years after the development of diabetes insipidus from perianal infiltrates. After treatment with leustatin in 4 cycles (10 mg a day for 5 consecutive days), control MR showed that the infiltration in the hypophysial infundibular had disappeared, while the finding in the perianal region only regressed by 50% after therapy with leustatin, the reason for subsequent application of radiotherapy (20 Gy). The finding in the perianal region is normal one year after therapy, but substitution therapy with adiuretin is still necessary. The 4th patient was a case of LCH with primary pulmonary involvement diagnosed on the basis of HRCT and lavage with an immunohistochemical proof (expression of CD1 and of protein S-100) of a high number of Langerhans cells. The occurrence of LCH at adult age is rare and the disease may affect the skeleton as well as other organs. Therefore each new osteolytic lesion should be submitted for histological exam, as well as each pathologic formation, because diagnosing the disease without a microscopic and immunohistochemical exams is not possible. In the case of occurrence of diabetes insipidus at adult age, LCH should be considered as one of the possible underlying diseases. LCH pulmonary involvement should be considered in patients with an interstitial pulmonary process and the examinations should be focused accordingly (thoracoscopy with sampling for histological exams or bronchoalveolar lavage) plus the indispensable immunohistochemical examination.
 ...
PMID:[Langerhans cell histiocytosis in adult patients--a disease with many faces. Experience of a centre and an overview of the disease symptoms]. 1906 80

A 30-year-old man patient was admitted to our clinic with complaints including cough, dyspnea, and chest pain. He had been diagnosed with pulmonary Langerhans' cell histiocytosis (LCH) 9 years previously. HRCT of the thorax demonstrated the presence of diffuse emphysematous areas in both lungs with a honeycomb appearance, an increase in reticular density at the lower lobes, a mass lesion in the left hilus, and a mass lesion at the lower lobe of the left lung. Histological diagnosis of TBNA from the right lower paratracheal and subcarinal lymph nodes was adenocarcinoma. Chemotherapy was begun, but the patient died due to respiratory failure after two courses of chemotherapy. We present this case as an example of the rare development of bronchogenic carcinoma during the long-term course of LCH.
 ...
PMID:Bronchogenic carcinoma developing during a long-term course of pulmonary Langerhans' cell histiocytosis. 1925 62

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.
 ...
PMID:Erdheim-Chester disease with lung involvement mimicking pulmonary lymphangitic carcinomatosis. 1936 81

A 31-year-old man presented with a dry cough and exertional dyspnea. The chest X-ray showed multiple nodular opacities throughout the entire lung field. Chest computed tomography (CT) revealed variable-sized nodules with a peribronchiolar or centrilobular distribution, some of which revealed thick-walled cavitary change. Based on the chest CT findings, it was initially assumed that metastatic lung nodules with hematogenous spread were present; therefore, we performed an open lung biopsy. On microscopic examination, several compact cellular interstitial infiltrates composed of Langerhans' cells, eosinophils, and lymphocytes were observed. Immunochemically, the Langerhans' cells showed strong cytoplasmic staining for S-100 protein. Based on these findings, the patient was diagnosed with Langerhans' cell histiocytosis of the lung. High-resolution CT of the chest is a useful, sensitive tool in the diagnosis of pulmonary Langerhans' cell histiocytosis (PLCH). A typical radiologic finding of PLCH is irregularly shaped cysts. The radiological finding in this case of nodular opacities throughout the lung fields only without cysts is rare in PLCH. We report a case of PLCH with atypical multiple nodules mimicking hematogenous metastatic lung nodules.
 ...
PMID:A case of pulmonary langerhans' cell histiocytosis mimicking hematogenous pulmonary metastases. 1994 41

Case 1 was a 22-year-old younger sister of identical twins who had smoked 10 cigarettes per day for 4 years since she was 18. She was admitted to our hospital due to dyspnea on exertion, dry cough and bilateral diffuse reticulonodular infiltrates on chest computed tomography (CT). Histological findings of transbronchial lung biopsy demonstrated nodular lesions consisting of spindle-shaped mononuclear cells. Immunohistochemical studies revealed that the cytoplasm of these mononuclear cells showed positive reactions to CD1a. Based on these findings, she was given a diagnosis of pulmonary Langerhans cell histiocytosis (LCH). She reduced the number of cigarettes smoked to 1 cigarette per week. After 6 months, her respiratory symptoms and radiographic abnormalities had improved. Case 2 was the elder twin sister of case 1. She had smoked 5 cigarettes per day for 4 years since she was 18. She presented no respiratory symptoms. However, as the diagnosis in case 1 was LCH, a chest CT was taken which revealed 3 small nodular lesions. After six months, there were no significant changes on chest CT. At the time of writing, she is 23-years-old and continues to smoke, however, has no respiratory symptoms.
 ...
PMID:[Pulmonary Langerhans cell histiocytosis in identical twins]. 2068 13

Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis of unknown etiology, characterized by multi-organ involvement. ECD is usually diagnosed on the basis of characteristic radiologic and histopathological findings. Lesions may be skeletal and/or extraskeletal in location, and may include the skin, lung, heart, and central nervous system. We describe here a 68-year-old man with multiple yellowish plaques and a pinkish nodule on his face and scalp. He had been previously diagnosed with diabetes insipidus, and recently complained of coughing and dyspnea. Imaging studies showed multiple osteosclerotic lesions of the bones, a moderate amount of pericardial effusion, and multifocal infiltrative lesions in the perirenal space. Histopathological examination of the skin lesions revealed dermal infiltration of foamy histiocytes with multinuclear giant cells. Moreover, laparoscopic biopsy of the perirenal tissue revealed fibrosis with infiltrating foamy histiocytes being CD68-positive and S100-negative. Based on these findings, he was diagnosed with ECD with extraskeletal manifestations, and treated with interferon-alpha.
 ...
PMID:Erdheim-chester disease. 2116 16

Pulmonary Langerhans cell histiocytosis (LCH) manifests with dyspnoea and a cough with no significant expectoration, with spontaneous pneumothorax being the first symptom in some patients. The disease is caused by multiple granulomas in terminal bronchioles, visible on high resolution CT (HRCT) as nodules. During the further course of the disease, these nodules progress through cavitating nodules into thick-walled and, subsequently, thin-walled cysts. LCH may affect the lungs only or multiple organs simultaneously. Pulmonary LCH may continually progress or remit spontaneously. Treatment is indicated in patients in whom pulmonary involvement is associated with multi-system involvement or when a progression of the pulmonary lesions has been confirmed. To document the disease progression, examination of the lungs using HRCT is routinely applied. Increasing number of nodules suggests disease progression. However, determining the number of nodules is extremely difficult. Measuring radioactivity of the individual small pulmonary loci (nodules) using PET is not possible due to the high number and small size of the nodules. Our centre has a register of 23 patients with LCH; the pulmonary form had been diagnosed in 7 patients. A total of 19 PET and PET-CT examinations were performed in 6 of these patients. PET-CT was performed using the technique of maximum fluorodeoxyglucose accumulation in a defined volume of the right lung--SUV(max) Pulmo. In order to compare the results of examinations performed using the same and different machines over time as well as in order to evaluate pulmonary activity, the maximum fluorodeoxyglucose accumulation in a defined volume of the right lung (SUV(max) Pulmo) to maximum fluorodeoxyglucose accumulation in a defined volume of the liver tissue (SUV(max) Hepar) ratio (index) was used. The disease progression was evaluated using the SUV(max) Pulmo/SUV(max) Hepar index in the six patients with pulmonary LCH. The index value was compared to other parameters characterising the disease activity (HRCT of the lungs, examination of pulmonary function and clinical picture). The SUV(max) Pulmo/SUV(max) Hepar index correlated closely with other disease activity parameters. The traditional PET-CT examination is useful in detecting the LCH loci in the bone, nodes and other tissue but not in the presence of diffuse involvement of pulmonary parenchyma. Measuring the maximum fluorodeoxyglucose accumulation in a defined volume of the right lung and expressing this activity as the SUV(max) Pulmo/SUV(max) Hepar index appears to be a promising approach. Our initial experience suggests that the results obtained using this method correlate well with other parameters that characterise activity of pulmonary LCH. However, this is a pilot study and further verification is required.
 ...
PMID:[Pulmonary Langerhans cell histiocytosis--evaluation of the disease activity and treatment response using PET-CT (SUV(max) Pulmo/SUV(max) Hepar index). Description of own experience and literature review]. 2126 Nov 10

A 44-year-old Japanese woman was admitted to our hospital because of dry cough and dyspnea on exertion. She had never smoked. She had been passively exposed to smoking by her husband and co-workers from the age of 21 (1984) to 33 (1996). She had previously developed pneumothorax twice, in 1985. On admission, computed tomography (CT) of the chest showed reticulonodular opacities predominant in bilateral upper lung fields, and pulmonary function tests revealed a decrease in vital capacity. The differential diagnoses were sarcoidosis, idiopathic pulmonary fibrosis and pulmonary Langerhans cell histiocytosis (PLCH). Video-assisted thoracic surgery was performed to make a definitive diagnosis. A histological specimen revealed the presence of CD1a-positive Langerhans cells in bronchiolocentric nodular lesions, leading to a diagnosis of PLCH. She was given 0.5 mg/kg bodyweight/ day oral prednisolone. Her symptoms disappeared with steroid maintenance therapy, and her vital capacity on pulmonary function testing was prevented from further deterioration. Based on the pathogenesis of PLCH, this case suggested that not only active smoking, but also passive smoking, played an important role in the development of PLCH.
 ...
PMID:[Pulmonary Langerhans cell histiocytosis in a non-smoking Japanese woman]. 2148 54

Malignant mesothelioma typically encases lungs as a thick rind, while relatively sparing lung parenchyma. We describe an unusual presentation of mesothelioma characterized by diffuse intrapulmonary growth, with absent or inconspicuous pleural involvement, clinically simulating interstitial lung disease (ILD). We identified 5 patients (median age 56 y, all men) with diffuse intrapulmonary malignant mesothelioma in our pathology consultation practice from 2009 to 2012. Clinical history, imaging, and pathology materials were reviewed. Symptoms included chronic dyspnea (4 cases), cough (3), and acute dyspnea with bilateral pneumothorax (1). Chest imaging showed irregular opacities (5), reticulation (4), pleural effusions (2), and subpleural nodular densities (1), without radiologic evidence of pleural disease or masses. A clinicoradiologic diagnosis of ILD was made in all cases, and wedge biopsies were performed. Histologic evaluation revealed a neoplastic proliferation of bland epithelioid or spindled cells, showing various growth patterns simulating silicotic nodules, desquamative interstitial pneumonia, organizing pneumonia, and Langerhans cell histiocytosis. Some areas mimicked adenocarcinoma, with lepidic, acinar, micropapillary, and solid patterns. Initial diagnoses by referring pathologists included reactive changes (1), hypersensitivity pneumonitis versus drug reaction (1), desquamative interstitial pneumonia versus neoplasm (1), and mesothelioma (2). Microscopic pleural involvement was identified in 4 cases. Immunohistochemistry confirmed the characteristic immunophenotype of mesothelioma in all cases. Median survival of 3 patients treated with chemotherapy was 28 months. Two patients received no therapy and survived 3 and 4 weeks, respectively. "Diffuse intrapulmonary malignant mesothelioma" is a rare variant with a distinctive presentation that clinically mimics ILD. Recognition is essential to avoid misdiagnosis.
...
PMID:Diffuse intrapulmonary malignant mesothelioma masquerading as interstitial lung disease: a distinctive variant of mesothelioma. 2379 22

Isolated pulmonary involvement in Langerhans Cell Histiocytosis (LCH) is rare in childhood. The authors report a 2-y-old boy who presented with acute history of fever, cough and respiratory distress; later developed pneumothorax; whose CT thorax showed diffuse pulmonary cystic lucencies bilaterally. Lung biopsy confirmed pulmonary LCH with CD1a positivity. Recurrent spontaneous pneumothoraces are common in patients of pulmonary LCH; which necessitates rapid intervention. The authors share their experience of successfully using iodopovidone in pleurodesis for repeated pneumothorax episodes in this child with rare diagnosis of isolated pulmonary LCH.
...
PMID:Iodopovidone pleurodesis for isolated pulmonary Langerhan's cell histiocytosis in a two year old child. 2403 94


<< Previous 1 2 3 4 5 Next >>