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 middle-aged Nigerian male had generalised pruritus, widespread flaccid vesicles and bullae, with ulcerations of the skin that heal without scarring, weight loss, positive nikolsy sign, anaemia, and marked eosinophilia. Pemphigus vulgaris is a rare disease among those of Negroid extraction, we therefore, report this case involving a Nigerian.
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PMID:Pemphigus vulgaris: case report in a Nigerian Negro. 175 10

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 revealed xanthomas and diffuse infiltration of mast cells in the dermis. The association of SMCD with xanthoma was reported in the literature for only one case. The hyper IgE could be due to the defect of IgE receptors on the cell membrane of mast cells of dysfunction of T and/or B cell. Any of the treatment using H1 and H2 receptor blockade, disodium cromoglycate, adrenocorticosteroid or chemotherapy (VEPA) were not effective. The patient died of pulmonary edema and multiple organ failure 7 months after the diagnosis was established. The crush method for the cytological examination of bone marrow was considered more useful than smear method for the diagnosis of SMCD.
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PMID:[Systemic mast cell disease associated with cutaneous xanthomas and markedly elevated serum IgE]. 224 20

Primary sclerosing cholangitis is a rare disease of unknown etiology. Sclerosis of the bile ducts may actually be the final result of multiple factors such as autoimmune, bacterial, congenital, drug, or viral injury. The most commonly associated diseases are ulcerative colitis and chronic pancreatitis. Except in the earliest stages of the disease, liver histologic findings are not specific. Most patients present with jaundice, pain, and pruritus, although an increasing number of asymptomatic patients with inflammatory bowel disease and abnormal liver function are being identified. Cholangiography is key to the diagnosis and is usually pathognomonic except in the unusual case where primary sclerosing cholangitis is confused with cholangiocarcinoma. Many forms of medical therapy have been tried, including antibiotics, azathioprine, cholestyramine, colchicine, cyclosporine, D-penicillamine, steroids, and ursodeoxycholic acid. To date, none of these medications has been proved to alter the course of this disease. Recent reports of ursodeoxycholic acid trials have been encouraging, but long-term results of ongoing randomized trials have yet to be published. In recent years, balloon dilatation of biliary strictures has been accomplished via endoscopic and percutaneous transhepatic approaches. However, in patients with primary sclerosing cholangitis, these nonoperative manipulations must be done repeatedly, may entail multiple general anesthetics, and are difficult to perform. We believe that a direct surgical approach to the biliary tree with long-term transhepatic stenting is indicated in selected patients with severe hilar or extrahepatic stricturing, persistent jaundice or recurrent cholangitis, and no evidence of cirrhosis. Hepatic transplantation should be reserved for patients with primary sclerosing cholangitis who have well-established cirrhosis and have not responded to other therapeutic measures.
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PMID:Primary sclerosing cholangitis. 224 21

The investigators report an ultrastructural study of a case of primary biliary cirrhosis histologically in stage II (Scheuer), a rare disease which has not been investigated extensively at the ultrastructural level. Biliary canaliculi are dilated and microvilli are scarce. Large granular formations are observed in the perisinusoidal cytoplasm. The plasma membrane between adjacent hepatocytes appears convoluted. The ultrastructural alterations of the biliary canaliculi which we observed have been described in the literature in cholestatic patients and ascribed to cholestasis. Our patients, however, has never suffered episodes of jaundice or itching and has no histological signs indicating cholestasis. We suggest that these are precocious alterations which precede the appearance of clinical and histological signs of cholestasis. It is necessary to study other cases in order to evaluate the significance of the large granular formations and the changes observed in the plasma membrane.
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PMID:[Unusual ultrastructural findings in a case of asymptomatic primary biliary cirrhosis]. 671 83

Fournier's gangrene is a necrotising soft-tissue infection of the scrotum and perineal region caused by gram-negative and gram-positive Enterobacteriaceae. The disease is characterised by its unique appearance, its speed of onset, and its high mortality. CASE REPORT. A 26-year-old male presented to the emergency room complaining of a painful, tremendously swollen scrotum and penis (Fig. 1) that had developed within the past 24 h. Later, slurred speech, pallor, and hypotension were recognised, leading to the patient's admission to the intensive care unit. Suspecting a severe internal haemorrhage, vigorous volume therapy was started using crystalloids and colloids until blood and fresh frozen plasma were available. One hour later, septic shock was presumed and therapy augmented by IV antibiotics, tracheal intubation, and mechanical ventilation. Despite all efforts, the patients condition deteriorated rapidly and he died a few hours later due to multiple organ failure in septic shock. Postmortem, a perforated external hemorrhoidal node was found to be the primary focus of sepsis. Microbiologic cultures revealed Escherichia coli in blood and tissue samples. DISCUSSION. Fournier's gangrene is a rare disease; nevertheless, its clinical picture has to be recognised immediately in order to provide appropriate treatment in time. It occurs predominantly in males after minor trauma, colorectal or urological disease, and perineal or abdominal surgery. Fournier's gangrene usually begins with itching and pain in the scrotal region followed by swelling and dark-blueish discolouration of the scrotum and penis, occasionally including the lower abdominal wall. Fever and chills are usually present. The illness progresses to severe prostation and septic shock with a mortality of 20%-50%. Tissue cultures mostly reveal E. coli, gram-positive enterococci, Pseudomonas, Proteus, and various anaerobes. The treatment should include immediate radical surgical debridement, i.v. administration of broad-spectrum antibiotics, and cardiopulmonary support. CONCLUSION. The dramatic course of Fournier's gangrene requires early recognition, extensive surgical debridement, as well as intensive care treatment in order to prevent irreversible septic shock.
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PMID:[Fulminating E. coli sepsis in Fournier's gangrene]. 814 38

Intrahepatic cholestasis of pregnancy (ICP) is a rare disease of unknown cause, recurrent, characterized by pruritus and, in some cases, mild jaundice. This cholestasis usually appears during the second half of pregnancy, and resolves in the early puerperium. ICP results in the elevation of serum total bile acids concentrations, mainly cholic acid, and abnormal routine liver function tests. Although maternal outcome is invariably good, an increased fetal risk has been reported, namely premature deliveries, fetal distress, and perinatal mortality. To avoid these deleterious consequences, strict fetal monitoring must be carried out during the final weeks of pregnancy, and the decision for delivery taken as soon as term or fetal maturity are achieved. The ursodeoxycholic acid (UDCA), that has been beneficial in other cholestatic liver diseases therapeutics, may become a promising drug in the treatment of ICP; nevertheless, due to the scarce experience with its use during ICP, and because its metabolism and mechanism of action is still poorly understood, it seems reasonable to test the effect of UDCA in these patients.
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PMID:[Intrahepatic cholestasis in pregnancy. Its etiopathogenesis, prognosis and therapy]. 820 6

Delayed pressure urticaria (DPU) is a rare disease of unclear pathophysiology and difficult to treat. Its typical manifestations are reddish, not itching swellings on parts of the body previously exposed to pressure and mostly only appearing 3 to 6 hours later. About 50% of the patients have general symptoms like fever, nausea and arthralgies. We report the case of a 36-year-old man who has suffered from DPU for 7 years. The incidence, symptoms and therapy of DPU are summarized and discussed in a short review of the existing literature.
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PMID:[Delayed-type pressure urticaria]. 884 99

Morvan's fibrillary chorea is a rare disease characterised by symptoms which include neuromyotonia, cramping, weakness, pruritus, hyperhidrosis, insomnia, and delirium. The first case of Morvan's fibrillary chorea to be associated with clinical manifestations of myasthenia gravis with thymoma, psoriasis, and atopic dermatitis is reported. Muscle histopathology disclosed chronic denervation and myopathic changes and in vitro electrophysiology demonstrated both presynaptic and postsynaptic defects in neuromuscular transmission. Serum antibodies to acetylcholine receptors, titin, N-type calcium channels, and voltage gated potassium channels were detected. Plasmapheresis, thymectomy, and long term immunosuppression induced a dramatic resolution of symptoms. The association of thymoma with other autoimmune disorders and autoantibodies, and prolonged and sustained remission with chronic immunosuppression, place Morvan's fibrillary chorea on the range of neurological diseases arising as a paraneoplastic complication of cortical thymomas.
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PMID:Morvan's fibrillary chorea: a paraneoplastic manifestation of thymoma. 985 61

Chronic actinic dermatitis is a rare disease worldwide and also in Korea. However there has been no clinicohistologic and photobiological analysis of chronic actinic dermatitis in Korea. We examined 11 patients who were diagnosed as chronic actinic dermatitis and the results of this study were compared with previous reports. Most patients were elderly men who had erythematous papules or lichenified plaques on sun-exposed areas such as the face, neck, and dorsum of the hands with severe itching sensation. All patients had severe sensitivity to UVB and biopsied specimens showed findings of chronic eczema. Five patients had positive photopatch test materials. The patients were treated with systemic and topical steroid, cyclosporine and antihistamine.
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PMID:A clinical analysis of 11 patients with chronic actinic dermatitis in Korea. 1081 18

Schnitzler's syndrome is a rare disease characterized by chronic urticaria, monoclonal IgM, and clinical and laboratory signs of inflammation. In a subset of patients, the urticarial lesions cause pruritus. However, the pathophysiology of the disease and the biochemical basis of urticaria are not known. We describe a female patient with Schnitzler's syndrome suffering from chronic urticaria associated with pruritus. The patient's serum was found to contain IgG antibodies recognizing cellular components of the microvasculature. In particular, IgG3 antibodies directed against proteins (14-100 kD) expressed in cultured dermal microvascular endothelial cells and mast cells, were found by immunoblotting. Moreover, IgG2 antibodies specific for the alpha-chain of the FcepsilonRI were detectable. However, the autoantibodies did not mediate histamine release in mast cells or basophils. In patients with IgM paraproteinemia who did not have Schnitzler's syndrome, antibodies against endothelial/mast cells or FcepsilonRI were not detectable. In summary, we describe subclass-specific IgG reactivity against microvascular endothelial cells and mast cells indicating Th1 autoimmunity in a patient with Schnitzler's syndrome. Whether such autoantibodies are recurrently produced in patients with Schnitzler's syndrome and play a role in the pathophysiology of the disease remains to be determined.
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PMID:Autoantibody reactivity in a case of Schnitzler's syndrome: evidence for a Th1-like response and detection of IgG2 anti-FcepsilonRIalpha antibodies. 1097 Nov 19


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