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)

Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistiocytic pleocytosis with increased protein levels in the cerebrospinal fluid. Characteristic laboratory findings in FHL are hypertriglyceridemia and hypofibrinogenemia, which are reversible with treatment. The disease has been rapidly fatal in most patients, but recently longterm remissions have been achieved with cytotoxic agents. Pathohistologic examination shows a widespread infiltrate of lymphocytes and mature macrophages with prominent hemophagocytosis affecting especially liver, spleen, lymph nodes and the central nervous system. Atrophy of the lymphatic tissue is a common finding. From the histologic picture FHL has to be grouped among the histiocytoses of reactive origin since the cells involved show no signs of malignancy. The etiology and pathogenesis of FHL are not known at present. Immunologic studies present evidence for a disturbed function of T lymphocytes, but a secondary immune defect seems to be more likely than primary immune deficiency. Among the broad clinical spectrum of histiocytic disorders especially histiocytic reactions due to infection, histiocytosis X and malignant histiocytosis have to be considered in the differential diagnosis of FHL.
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PMID:Familial hemophagocytic lymphohistiocytosis. 635 20

Langerhans cell histiocytosis (LCH) is a class I histiocytosis characterized by the presence of the pathologic Langerhans cell, an unique histiocyte. In contrast to LCH, class II histiocytosis is characterized by the proliferation of mononuclear phagocytes other than Langerhans cells and includes sinus histiocytosis with massive lymphadenopathy, viral-associated hemophagocytic syndrome, and familial hemophagocytic lymphohistiocytosis. Until now, these two classes have been considered separate, if related, entities. We report a 10-month-old girl who presented with pyrexia, hepatosplenomegaly, an eczematous skin rash, anemia, thrombocytopenia, and a markedly elevated serum IgG and IgM antibody level to cytomegalovirus. Histologic proof of both hemophagocytosis in the liver and bone marrow and LCH in the skin was obtained at presentation. The clinical course and response to treatment over 6.5 years is recorded. Although the etiology of both class I and class II histiocytosis remains unknown, we speculate that the monocytic/macrophage disorder, as well as the LCH, were both triggered by virus or viral-related monokines secreted by activated macrophages.
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PMID:Simultaneous occurrence of viral-associated hemophagocytic syndrome and Langerhans cell histiocytosis: a case report. 762 81

Familial hemophagocytic lymphohistiocytosis (FHL) and Langerhans cell histiocytosis (LCH) are histiocytic diseases that occur most commonly in young children. Improvements in recognition and treatment have been substantial for both diseases in the past decade, although early and late morbidity continue to be major concerns. These two diagnoses behave differently, although the clinical spectra for both diseases are diverse and can lead to confusion and delays in diagnosis and treatment. This article focuses on the clinical and genetic spectrum of FHL as well as the clinical and treatment variations of LCH.
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PMID:Usual and Unusual Manifestations of Familial Hemophagocytic Lymphohistiocytosis and Langerhans Cell Histiocytosis. 2789 53