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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 44-year-old woman was admitted to our hospital in August 1999 for multiple large nodules detected on chest roentgenogram in an annual health check. Chest CT scans showed bilateral large nodules (>10 mm in diameter) with irregular margins and multiple thin walled cystic lesions. From these radiologic examinations, we suspected pulmonary Langerhans cell histiocytosis. Histological examination of the biopsy specimen by video-assisted thoracoscopy revealed a marked proliferation of the spindle cells, which were immunologically positive for alpha-smooth muscle actin and HMB-45, in the cyst walls and lung parenchyma. The large nodules consisted of proliferation of the smooth muscle cells surrounded by a dense layer of hemosiderinladen macrophages. During the two years subsequent to these 1999 examinations, the opacities have gradually diminished and the patient was found to have pulmonary lymphangioleiomyomatosis. This case exhibited rare radiologic manifestations of multiple large nodules mimicking Langerhans cell histiocytosis.
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PMID:Pulmonary lymphangioleiomyomatosis; unusual radiological manifestation of multiple large nodules. 1241 15

Mulibrey nanism (MUL) is a monogenic disorder with prenatal-onset growth failure, typical clinical characteristics, cardiopathy and tendency for a metabolic syndrome. It is caused by recessive mutations in the TRIM37 gene encoding for the peroxisomal TRIM37 protein with ubiquitin-ligase activity. In this work, the frequency and pathology of malignant and benign tumours were analysed in a national cohort of 89 Finnish MUL patients aged 0.7-76 years. The subjects had a clinical and radiological evaluation, and histological and immunohistocemical analyses on specimens obtained from biopsy, surgery or autopsy, were performed. The results show that the MUL patients have disturbed architecture with ectopic tissues and a high frequency of both benign and malignant tumours detectable in several internal organs. A total of 210 tumorous lesions were detected in 66/89 patients (74%). Fifteen malignancies occurred in 13 patients (15%), seven of them in the kidney (five Wilms' tumours), three in the thyroid gland, two gynaecological cancers, one gastrointestinal carcinoid tumour, one neuropituitary Langerhans cell histiocytosis and one case of acute lymphoblastic leukaemia (ALL). Tumours detected by radiology in the liver and other organs mainly comprised strongly dilated blood vessels (peliosis), vascularized cysts and nodular lesions. The lesions showed strong expression of the endothelial cell markers CD34 and CD31 as well as the myocyte marker alpha-smooth muscle actin (alpha-SMA). Our findings show that MUL is associated with frequent malignant tumours and benign adenomatous and vascular lesions, as well as disturbed organ development.
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PMID:High frequency of tumours in Mulibrey nanism. 1934