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)

The case of a 3 year-old boy who presented isolated cholestasis as the initial symptom of histiocytosis X is described. Other symptoms occurred later on. Despite treatment (corticosteroid and Vinblastin), the disease continued to progress and the child died at the age of 4 1/2 years with HIV infection (contaminated blood product) and tuberculosis.
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PMID:[Sclerosing cholangitis revealing histiocytosis X]. 234 48

Primary sclerosing cholangitis in five children is described and 78 cases in the pediatric age group are reviewed. In 24% of the cases, primary sclerosing cholangitis is not associated with an underlying disease and may appear to be prolonged cholestasis of infancy. When an associated condition is present, chronic inflammatory bowel disease, in particular ulcerative colitis, is most common (47%). Histiocytosis X and a variety of immune disorders account for 15% and 10% of cases, respectively. Primary sclerosing cholangitis should be considered in the differential diagnosis of chronic liver disease in the pediatric age group, even in young infants. Results of this survey demonstrate that neither clinical features nor liver function tests are reliable diagnostic predictors, that histologic changes are often nonspecific, and that cholangiography is essential to establish the correct diagnosis.
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PMID:Primary sclerosing cholangitis in children: study of five cases and review of the literature. 331 63

Prolonged cholestasis was observed in 6 children with histiocytosis X. Operative cholangiograms confirmed the patency of the extrahepatic biliary tree and showed marked distortion of intrahepatic bile ducts resembling that observed in sclerosing cholangitis. Histologic examination showed portal fibrosis in all patients; only one was found to have portal histiocytic infiltration. The subsequent course confirmed the ominous significance of cholestasis in histiocytosis X, a rare finding in this disease: One patient died of progressive liver failure and three others from sepsis after unsuccessful attempts to improve the condition of the liver with chemotherapy.
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PMID:Obstructive jaundice in children with histiocytosis X. 696 76

Liver involvement manifesting as hepatomegaly in Langerhans cell granulomatosis (LCG) is well known, but the definitive diagnosis is generally possible because other organs are involved. We report a 41-year-old white man who presented with cholestasis and liver nodules as an isolated hepatic LCG. The diagnosis of LCG was suspected based on routine histopathologic examination; the diagnosis became definitive 4 years later when Birbeck granules were found in the liver, an uncommon occurrence in this organ. This is an unusual presentation of a benign form of this disease and one of the first that reported Birbeck granules in the liver.
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PMID:Hepatic nodules as single organ involvement in an adult with Langerhans cell granulomatosis. A case report. 949 69

Among adults, liver involvement is relatively frequent in Langerhans' cell histiocytosis (LCH), even though it is often overlooked. In fact, the liver involvement may be missed in apparently localized LCH or when it is the sole site of involvement. We present 23 cases of liver involvement in LCH out of a cohort study of 85 adult patients included in the French Histiocytosis Study Group Registry. The most frequent clinical setting was multiorgan involvement (87% of our cases). The main histological pattern in liver LCH was sclerosing cholangitis (56% of the cases). The symptoms included hepatomegaly (48%) and/or liver biochemistry abnormalities (61%, including cholestasis associated with increased transaminases levels in 35% of cases, cholestasis only in 22% and increased transaminases levels only in 4% of the cases). Particularly suggestive of the diagnosis was the observation of biliary tree abnormalities through magnetic resonance imaging (MRI). The natural history of liver LCH fits into two stages: early infiltration by histiocytes and late sclerosis of the biliary tree. We found that liver involvement had a significant impact on survival. Thus we suggest that clinical and biological liver evaluation must be performed regularly onwards to screen every LCH adult patient from the time of the initial diagnosis. MRI and liver biopsy should be considered as soon as the data point to a possible liver localization. If this diagnosis is confirmed, we suggest a treatment with ursodesoxycholic acid, as in other cholestatic diseases, together with treatments specifically directed towards LCH. However, the ideal treatment of liver LCH remains to be found, and in advanced cases transplantation is the sole option.
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PMID:Langerhans' cell histiocytosis of the liver in adults. 2155 Mar 30

Langerhans cell histiocytosis (LCH) is a disorder associated with proliferation of Langerhans cells in various organs. LCH secondary to multisystem involvement can present in a variety of ways. Because of its infiltrative nature, LCH can involve the skin, lymph nodes, the lung or the liver. Jaundice in LCH is a manifestation of liver disease; biliary dilatation secondary to lithiasis or may be due to coexistent Niemann-Pick disease. However, a case of cholestasis has been very rarely described. Cholestasis may result from lymph nodes obstructing the porta hepatis. In this report, we describe a case of type II histiocytosis X with obstructive cholestasis and pulmonary involvement in the form of cysts without significant lymphadenopathy at the porta.
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PMID:Disseminated langerhans cell histiocytosis presenting as cholestatic jaundice. 2585 97

Tfifha M, Kamoun T, Mama N, Mestiri S, Hassayoun S, Zouari N, Jemni H, Abroug S. Childhood sclerosing cholangitis associations in a Tunisian tertiary care hospital: a many-faceted disease. Turk J Pediatr 2019; 61: 905-914. Sclerosing cholangitis (SC) is a liver disorder affecting children and adults, causing chronic cholestasis and secondary biliary cirrhosis. The purpose of this study was to present different associated diseases to SC in a Tunisian tertiary care hospital. Six patients were identified with SC associated with other diseases, four males and two females. The first symptom was liver enlargement in all cases with abnormal liver biochemistry. A moderate increase in AST and ALT levels was registered in all cases with moderate cholestasis in 4 patients. Three of them presented an auto-immune condition. Two patients were diagnosed with auto-immune hepatitis prior to SC and Crohn disease in only one patient. One developed linear IgA bullous dermatosis. Three patients were diagnosed with Multisystemic Langerhans Cell Histiocytosis (LCH). The primary site of LCH was the liver associated secondary to insipidus diabetes (one case), mastoiditis (two cases) and chest localization (one case). The outcome of those patients was variable with poor prognosis especially for SC secondary to LCH. No patient underwent liver transplantation. SC is a rare disorder with variable clinical presentations. To our knowledge, this is the first report of this condition in Tunisian and North African children. Diagnosis and treatment of SC and its associations remains a challenge, especially because there is still no effective medical therapy aimed at preventing disease progression. Pediatric liver transplantation is the only life-extending therapeutic alternative for patients with end-stage liver failure. Liver transplantation has not been performed on young children in our country.
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PMID:Childhood sclerosing cholangitis associations in a Tunisian tertiary care hospital: a many-faceted disease. 3213 85