Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033774 (pruritus)
 14,546 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of familial cholestasis with cirrhosis is described in a 8 months old boy, presenting with hepatosplenomegaly, portal hypertension, dramatic pruritus, and fluctuating icterus of early post-natal onset. Biological data include positive hepatocyte retention test, with mild hepatocyte cytolysis, without patent hepatocyte insufficiency. The discrepancy between the clinical symptoms and a slight elevation of bilirubin partially conjugated, the absence of elevated blood cholesterol, the absence of evidence of antigen or antibody of virus A or B, the marked elevation of blood biliary acid lead to the suspicion of Byler disease. A liver biopsy with ultrastructural study shows a thickening of the ectoplasm, and the presence of microfilament material in the lumen of partially broken villi. Comparisons are made with the 4 other cases of Byler disease with E.M. study documented in the literature.
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PMID:[Byler's disease. Ultrastructural study. Apropos of a case in an infant]. 654 4

A case is reported of a 72 year old man suffering from classical seropositive RA for 10 years. Two months before admission he experienced general illness, fever and itching. Lymph nodes enlargement and hepatosplenomegaly were found. Histologic features of lymph node biopsy were compatible with angioimmunoblastic lymphadenopathy and Lennert lymphoma. Rapidly progressive pulmonary deterioration followed with hilar invasion and honeycombing. Sternal punction, bone biopsy, bronchus biopsy and blind lung biopsy however, did not reveal lymphomatous invasion. On the contrary, lung biopsy, showed bronchiolitis obliterans, an often fatal, small airway disease whose connection with RA is discussed. Plasmapheresis induced a correction of leucopenia and thrombocytopenia. A fatal evolution evolved within six months. Autopsy revealed diffuse invasion by immunoblastic sarcoma. The clinicopathological entities angioimmunoblastic lymphadenopathy and Lennert lymphoma are referred to. The relationship with autoimmune disorders is stressed.
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PMID:Rheumatoid arthritis associated with bronchiolitis obliterans and immunoblastic sarcoma. 689 26

Two cases of hepatic paraneoplastic manifestations of carcinoma of the kidney are presented. In one, hepatosplenomegaly and abnormal liver function tests resolved following removal of the tumour. In the other, pruritus as a symptom of cholestasis was the presenting feature. Post-operatively a full blown cholestatic syndrome developed. Although their clinical presentations differed they may represent a spectrum of the same disease.
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PMID:Cholestasis as a paraneoplastic manifestation of carcinoma of the kidney. 694 80

Two patients presented with a short history of constitutional symptoms including fatigue, weight loss, night sweats and pruritus. Both had hepatosplenomegaly and tender lymphadenopathy, and in each case lymph node biopsy revealed prominent vascularization of the interfollicular zones and the presence of an amorphous eosinophilic fibrillar material, together with many epithelioid histiocytes, immunoblasts and plasma cells. In other areas of the same lymph nodes unequivocal lymphocytic lymphoma was present. The first patient was treated with levamisole, to which there was dramatic response. She subsequently died of septicaemia, and at autopsy was shown to be free of lymphoma. The second patient responded completely to the epipodophyllotoxin VP16-213 and is back at work as a heavy labourer without any residual disease. These 2 cases illustrate that complete clinical remission can be obtained in patients with this disease even after lymphomatous transformation has occurred. Levamisole has the additional attraction of being less immunosuppressive in patients whose immune response is already impaired.
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PMID:Angio-immunoblastic lymphadenopathy. 710 Oct 70

We present an 18-year-old woman who was diagnosed with acute myeloblastic leukemia (AML M2), and in whom chromosome analysis of bone marrow cells revealed t(7;11), an abnormality rarely found in leukemias with a differentiation potency. She relapsed 1 year after complete remission was achieved by chemotherapy. Bone marrow examination then revealed a t(7;11) abnormality in 48 of 50 metaphases examined, even when there were less than 7.5% leukemic blasts in the marrow, indicating that the morphologically normal cells were derived from leukemic blasts. The number of leukemia clones with the additional abnormalities in chromosome 5 increased, with concurrent development of eosinophilia, fever, asthma-like symptoms, erythema, itching, and hepatosplenomegaly. Elevation of interleukin 5 (IL-5) in serum and an enhanced expression of IL-5 mRNA were also detected. The increase in IL-5 may have been produced by an abnormality on chromosome 5.
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PMID:Acute myeloblastic leukemia (M2) with translocation (7;11) followed by marked eosinophilia and additional abnormalities of chromosome 5. 765 2

There have been a few reports of infants with severe neonatal cholestasis related to a defect in primary bile acid synthesis. To assess the importance of such deficiency among children with progressive intrahepatic cholestasis (Byler disease), screening for inborn errors in bile acid synthesis was performed by fast atom bombardment ionization-mass spectrometry of urine samples from 30 affected children. Bile acid analysis revealed a specific fast atom bombardment ionization-mass spectrometry profile for 3 beta-hydroxy-C27 steroid dehydrogenase/isomerase deficiency in five children who had jaundice, hepatosplenomegaly, and fatty stools beginning at ages ranging from 4 to 46 months. None of them had pruritus. Liver function tests showed persistently normal serum gamma-glutamyltransferase activity, low serum cholesterol and vitamin E levels, normal serum bile acid concentrations despite raised serum bilirubin levels, and decreased prothrombin time and clotting factor V. In four of the cases a similar disease was observed in siblings. Liver function returned to normal after oral ursodeoxycholic acid therapy. We conclude that 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency should be considered when idiopathic cholestatic liver disease with clinical features akin to Byler disease is characterized by the association of normal serum gamma-glutamyltransferase activity, normal serum bile acid concentration, absence of pruritus, and a return to normal liver function during ursodeoxycholic acid therapy. Early identification of these children is essential because they benefit from bile acid therapy and might thus avoid the need for liver transplantation.
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PMID:A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. 791 5

A 44-year-old woman was admitted to our department because of fever and skin eruptions on August, 1991. Physical examination revealed superficial lymph node swelling, hepatosplenomegaly and generalized erythroderma. Laboratory findings were as follows; WBC 21,490/microliters with 67% lymphocytes including flower cells. The surface phenotype of lymphocytes was positive for CD2, CD4, CD25, CD29 suggesting helper-inducer T cell. Skin and lymph node biopsies revealed the infiltration of T cells with indented nuclei. Anti-HTLV-1 antibodies in the serum and HTLV-1 proviral DNA analysis by PCR method were negative. She was diagnosed as CTCL, and she was treated with prednisolone. However, her erythroderma deteriorated gradually, in spite of well-controlled lymphocyte counts. Combination chemotherapy, utilizing vincristine, etoposide and cyclophosphamide, was effective against organomegaly but not against generalized erythroderma. After DCF was initiated at a weekly dose of 7.5 mg, her erythroderma improved rapidly and markedly with the disappearance of severe itching, and she achieved complete remission. Our results suggest that DCF is beneficial for chemotherapy-resistant generalized erythroderma in CTCL.
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PMID:[Successful combination chemotherapy including deoxycoformycin in a case of cutaneous T cell lymphoma]. 868 70

Progressive familial intrahepatic cholestasis (PFIC) is a lethal inherited childhood cholestasis of hepatocellular origin. Different subtypes of PFIC have been described according to serum gamma-glutamyl transpeptidase (GGT) activity. There is currently no effective medical therapy available for children with PFIC. We report on 39 patients with PFIC who received ursodeoxycholic acid (UDCA) orally (20-30 mg/kg b.w./day) for a period of 2 to 4 years. Group 1 (n = 26) consisted of children with normal GGT activity, and group 2 (n = 13) of children with high GGT activity. Within group 1, liver tests normalized in 11 children, improved in 5, and stabilized or worsened in 10. Within group 2, liver tests normalized in six children, improved in four, and stabilized or worsened in three. Improvement of parameters was associated with an enrichment of the circulating pool of bile acids with UDCA. Hepatosplenomegaly and pruritus disappeared or diminished in children in whom liver tests normalized. In nine of these children, liver tests worsened and normalized again after stopping and restarting UDCA. Liver histology assessed in four children after normalization of liver tests and 2 years of treatment showed a decrease in fibrosis. We conclude that UDCA should be considered in the initial therapeutic management of children with PFIC, because it appears effective in resolving or improving the liver function and the clinical status of a fair proportion of children. Chronic UDCA therapy might thus avoid the need for liver transplantation in some children with PFIC.
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PMID:Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. 904 90

Systemic mastocytosis (SM), as opposed to cutaneous-only mastocytosis, implies the presence of neoplastic mast cell infiltration in extracutaneous tissue. Mast cell disease in adults is often systemic and often involves the bone marrow. Typical clinical and laboratory features of SM include urticaria pigmentosa, mast cell mediator symptoms (eg, headache, flushing, lightheadedness, urticaria and pruritus, nausea, diarrhea, abdominal pain, and vasodilatory shock), bone pain (eg, osteoporosis, lytic bone lesions, and fractures), hepatosplenomegaly, cytopenia, eosinophilia, elevated serum tryptase and histamine, and bone marrow fibrosis and angiogenesis. SM may be indolent (no evidence of organ dysfunction), aggressive (presence of organ dysfunction), associated with another often chronic myeloid hematologic disease (SM-AHD), or present as mast cell leukemia or sarcoma. Mast cell-mediator symptoms are treated with histamine antagonists and cromolyn sodium. Indolent SM does not require cytoreductive therapy. Aggressive SM and SM-AHD are managed based on their molecular profile. Recent information suggests that FIP1-like-1-platelet-derived growth factor receptor-alpha(+) SM responds well to imatinib mesylate, whereas interferon-alpha should be considered as a first-line treatment in all of the other cases, including patients with Asp816Val(+) SM. Cladribine has been shown to be effective in patients who develop resistance to interferon treatment.
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PMID:Systemic mastocytosis: current concepts and treatment advances. 1508 68

A 41-year-old woman presented with a 2-month history of pruritus and a generalized dermatitis that developed initially on the head and spread to the trunk, legs, and buttocks. The pruritus caused extreme discomfort and was not relieved by antihistamines or topical steroid treatment. The patient denied flushing, syncope, and vomiting. Her medical history included asthma treated with salmeterol/fluticasone propionate inhaler, and status post silicone breast augmentation. Physical examination revealed a papular dermatitis on the trunk and extremities composed of lesions up to 0.5 cm in diameter, surrounded by excoriation marks (Figure 1). There was no hepatosplenomegaly or lymphadenopathy. Darier's sign was negative. Results of complete blood count, peripheral blood film examination, and liver function tests were all with normal limits. A biopsy specimen taken from a lesion and stained with hematoxylin-eosin showed telangiectasias, with an increased number of mast cells around blood vessels (Figure 2). Positive Giemsa (Figure 3) and c-kit stain (Figure 4) indicated an increased number of mast cells. Bone marrow aspiration and total body CT performed to rule out systemic involvement showed no pathology. Protein electrophoresis was normal. Serum tryptase and histamine were within normal limits, and 24-hour urine collection for histamine was normal. Narrow-band UV-B treatment was begun 3 times weekly, reduced to twice weekly after 2 months, and then stopped. The first few treatments resulted in significant relief of the pruritus and regression of lesions. After 3 months without treatment, the patient remained free of pruritus and lesions.
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PMID:Telangiectasia macularis eruptiva perstans: unusual presentation and treatment. 1708


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