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)

A patient who developed diffuse normolipidemic plane xanthomas also presented with IgG lambda monoclonal gammopathy, hypernephroma, an unusual family cluster of leukemia (with two family members in two generations), and a unique, acquired C1-esterase inhibitor deficiency. A second patient presented with widespread normolipidemic papular xanthomas in which histiocytes containing Langerhans' granules were found. The lipid composition of the lesions of these two patients showed striking differences. Excesses of triglycerides and cholesterol ester were demonstated in plane xanthoma, whereas phospholipids were prominent in the popular xanthoma of histiocytosis X. We present and classify these two cases to emphasize the diagnostic value of chemical and ultrastructural studies of normolipidemic cutaneous xanthomatosis.
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PMID:Unusual normolipidemic cutaneous xanthomatosis: a comparison of two cases illustrating the differential diagnosis. 7 9

Differentiation among various non Langerhans cell histiocytoses granulomatous in adults is often difficult. Patients, moreover, may not have endocrinologic abnormalities. A 53-yr-old patient was admitted owing to central diabetes insipidus and partial hypopituitarism. Magnetic resonance imaging revealed a space-occupying lesion near the hypophyseal stalk, along with diffuse signal uptake in the cerebellar region. Laboratory chemistry showed monoclonal gammopathy of IgGkappa, and hormone tests disclosed insufficiency in the gonadotropic and somatotropic axes. The clinical picture was marked by multiple cutaneous xanthogranulomas, ataxic gait with blurred speech, compatible with pseudobulbar pontocerebellar symptomatology. Stereotactic pituitary biopsy was histologically classified as nonspecific granulomatous disease. Supplemental biopsies taken from the cutaneous periorbital xanthogranulomas were histologically and immunohistochemically consistent with non Langerhans cell histiocytosis. Systemic cortisone treatment as well as local radiotherapy to the pituitary lesion with a total of 18.0 gy had no impact on the progression of disease-growing tumor and progressing neurologic symptoms. Systemic granulomatoses cannot always be classified according to specific defined diseases. Differential diagnosis in the current patient should include the possibility of Erdheim-Chester disease, necrobiotic xanthogranuloma, and adult disseminated xanthoma.
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PMID:Problems in differential diagnosis of non Langerhans cell histiocytosis with pituitary involvement: case report and review of literature. 1266 54

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. We report a fatal case of ECD with extensive cardiac involvement associated with a marginal zone lymphoma and monoclonal proteinemia in a young man. This is the first reported association of ECD with a monoclonal gammopathy or a lymphoma.
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PMID:Erdheim-chester disease associated with marginal zone lymphoma and monoclonal proteinemia. 2293 16

Necrobiotic xanthogranuloma (NXG) is an indolent non-Langerhans cell histiocytosis characterized by yellow xanthomatous plaques that tend to ulcerate. Necrobiotic xanthogranulomas have a predilection for the bilateral periorbital region and often present with consequential ophthalmic findings. Histopathology usually reveals a distinctive pattern of histiocytic xanthogranuloma with hyaline necrobiosis. Necrobiotic xanthogranuloma has been documented to have a close association with paraproteinemia. We report the case of a 76-year-old man with periorbital NXG without development of a monoclonal gammopathy. Clinically, the patient presented with dry eyes and substantial periorbital edema with multiple yellow indurated plaques. He developed the condition 30 years prior to presentation at which time it was initially diagnosed as xanthelasma. He underwent surgical excision of the lesions 10 years prior to the current presentation and biopsy results revealed a diagnosis of NXG. The periorbital lesions recurred several years prior to presentation, prompting annual computed tomography scans to rule out ocular invasion. Periorbital edema and plaques improved during a 6-month regimen of acitretin but returned to baseline just months after discontinuation.
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PMID:Necrobiotic xanthogranuloma without a monoclonal gammopathy. 2556 70

Necrobiotic xanthogranuloma (NXG) is an uncommon non-Langerhans cell histiocytosis involving skin and extracutaneous tissues. The lesions are usually asymptomatic and commonly appear in the periorbital area. Paraproteinemia is closely associated with NXG and its pathogenesis remains unclear. NXG prognosis is poor with several treatments showing variable results. Treatment of monoclonal gammopathy with alkylating agents does not necessarily influence the activity of the skin disease and vice versa. The aim of this systematic review is to summarize all reported treatments of necrobiotic xanthogranuloma of the skin, with or without underlying malignant condition and based on articles from the PubMed database using the query 'necrobiotic xanthogranuloma treatment', both in English and German, about 'human' subjects and published between 1980 and 2014, documenting adequate treatment for NXG. Mainly individual case reports, small case series and retrospective studies were found. Treatment options include topical and systemic corticosteroids, thalidomide, high-dose intravenous immunoglobulin (IVIG), chlorambucil, cyclophosphamide, fludarabine, rituximab, melphalan, infliximab, interferon alpha, cladribine, hydroxychloroquine, azathioprine, methotrexate, laser therapy, radiotherapy, surgery, PUVA, plasmapheresis and extracorporeal photopheresis. Randomized controlled trials and studies on long-term outcomes after treatment were not found and are necessary to focus on in the future.
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PMID:Treatment of necrobiotic xanthogranuloma - a systematic review. 2743 48