xanthomatosis/vomă

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Duodenal Xanthoma: From Specks to Obstruction.

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Xanthomas within the gastrointestinal tract occur secondary to a mucosal insult. When enough cells accumulate, their appearance can range from small nodules studding the intestinal mucosa to bandlike infiltrations to pseudotumor-like masses within the intestine with fibrosis and inflammation

Multiple, Large Colonic Xanthomas Presenting as Intestinal Obstruction

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Gastrointestinal (GI) xanthomas are rare entities found incidentally on endoscopy. There have been only a few cases where they presented with symptoms of bowel obstruction. We present a case of an 89-year-old woman with a history of short-gut syndrome due to partial colectomy who had multiple

Small Bowel Obstruction due to Intestinal Xanthomatosis.

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Vast majority of bowel obstruction is due to postoperative adhesions, malignancy, intestinal inflammatory disease, and hernias; however, knowledge of other uncommon causes is critical to establish a prompt treatment and decrease mortality. Xanthomatosis is produced by accumulation of

Gastric Xanthoma in the Pediatric Population: A Possible Herald for Malignancy?

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Gastric xanthoma is frequently an incidental finding on upper endoscopy in adults. Gastric xanthomas (GX) can be mistaken for malignancies and warrant prompt histologic diagnosis. The underlying etiology is not fully understood; however, it has been linked to Helicobacter pylori gastritis and

[Systemic mast cell disease associated with cutaneous xanthomas and markedly elevated serum IgE].

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Systemic mast cell disease (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, vomiting, fever, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy. We reported a case of SMCD associated with cutaneous xanthoma and serum hyper IgE. Skin biopsy

Mixed Pneumocystis and Cryptococcus cutaneous infection histologically mimicking xanthoma.

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Cutaneous Pneumocystis jirovecii infection is rare. It is thought that the disease emerges from a latent infection delivered via hematogenous and/or lymphatic dissemination from a primary lung infection in immunocompromised individuals. A 32-year-old human immunodeficiency virus-positive male was

Multiple intracranial xanthogranulomas--case report.

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A 58-year-old female was admitted to our hospital with nausea, vomiting, and gait disturbance of 1 year duration. Postcontrast computed tomographic scans demonstrated enhanced lesions in the left cerebellopontine angle (CPA), the retrosellar region, the right parasellar region, and the left

[Wolman disease with novel mutation of LIPA gene in a Chinese infant].

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OBJECTIVE To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis. METHODS Lysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

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BACKGROUND Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. RESULTS An 11-week-old, exclusively breastfed male presented with

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