Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Adult T-cell leukemia (ATL) is characterized by peripheral lymph node enlargement, hepatosplenomegaly and skin lesions. The association of local mass lesions of other organs with ATL is extremely rare. This report describes a 57-year-old woman with chronic type ATL with associated local tumor masses in the nasal cavity, paranasal sinuses and larynx as well as skin infiltration. Histologic investigation of the skin lesion and nasal mucosa revealed non-Hodgkin lymphoma, diffuse, mixed type. Her chief complaints were progressive dyspnea and hoarseness. Leukemic cell masses in her upper respiratory tract caused narrowing of the airway, which was responsible for her complaints.
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PMID:Upper respiratory tract involvement in adult T-cell leukemia. 289 71

We describe new pathologic findings in two sibs with Farber lipogranulomatosis. The first child, a 3-month-old boy, presented with only hepatosplenomegaly and had a fulminant clinical course suggestive of malignant histiocytosis. The second child, a 5 1/2-month-old girl, had the typical clinical presentation of Farber disease, with hoarseness and painful swollen joints. At autopsy, storage material was demonstrated in the second child at laryngeal and periarticular subcutaneous sites. Visceral involvement was prominent in both sibs, although not typical of the disease, and included a newly described nephropathy with elevated urine ceramide levels. Liver and spleen contained massive histiocytic infiltrates in association with elevated ceramide levels. Lymph nodes also contained histiocytic infiltrates but without the sinusoidal involvement typical of proliferative histiocytic disorders. These two cases demonstrate new pathologic anomalies in Farber disease, indicating that biochemical analyses of biopsy specimens may be necessary to establish the diagnosis of Farber disease when atypical clinical and morphologic anomalies are present.
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PMID:Farber disease: pathologic diagnosis in sibs with phenotypic variability. 313 Aug 60

We describe here a case of longstanding rheumatoid arthritis (RA) presenting with recurrent episodes of epigastric pain, melena, nonprogressive dysphagia, and hoarseness associated with persistent peripheral blood eosinophilia. Her RA was clinically inactive, but she had significant lymphadenopathy and hepatosplenomegaly. Computed tomographic scan of the thorax revealed circumferential wall thickening extending from the oropharynx to the gastroesophageal junction with a large polypoidal mass projecting into the lumen of the stomach. Histology revealed infiltration of the esophageal mucosa by eosinophils with a density of 40 to 80 per high-power field. The stratified squamous epithelium of the pharyngeal mucosa was also infiltrated by eosinophils with a density of more than 100 per high-power field. Eosinophilic esophagitis and pharyngitis were diagnosed, and the patient was administered corticosteroids and hydroxyurea, following which her symptoms resolved. On repeat imaging, there was significant reduction in esophageal wall thickening and luminal dilatation. There are few reports of tissue eosinophilia in association with RA, but the pathogenesis and any definite association with RA are not clear.
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PMID:Eosinophilic esophagitis and pharyngitis presenting as mass lesion in a patient with inactive rheumatoid arthritis. 2215 69