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)

An 80-year-old woman was referred to our hospital with a spontaneously appearing bullous dermatosis limited to the soles of both feet, causing an intense pruritus. She also suffered from Parkinson's disease and depression, and had been treated with levodopa, benserazide, and mirtazapine for several years. On clinical examination, we found several tense and hemorrhagic bullae, with a diameter of up to 3 cm, at both plantar sites and multiple, confluent, dyshidrotic vesicles ( Figs 1 and 2). The rest of the skin, including the mucous membranes and palms, was normal. The first clinical diagnosis was podopompholyx, but histopathologic findings and direct immunofluorescence revealed a diagnosis of bullous pemphigoid, showing subepidermal blisters (Fig. 3) and linear deposits of C3 and immunoglobulin G (IgG). Indirect immunofluorescence was positive, the IgG autoantibodies bound to the epidermal site of salt-split skin, and circulating antibodies against bullous pemphigoid antigens 1 and 2 were found. Because of this typical clinical picture, a diagnosis of dyshidrotic pemphigoid, a localized form of bullous pemphigoid, was made. Under systemic treatment with prednisolone, 40 mg/day, the skin healed completely within 2 weeks. Descriptions of dyshidrotic pemphigoid limited to the soles of both feet are very rare, and the clinical findings might easily lead to a misdiagnosis of podopompholyx.
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PMID:Localized pemphigoid on the soles of both feet. 1581 Oct 84

Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction. Effective medical treatment is not available. We report complete and long-lasting disappearance of pruritus and normalization of serum bile salt concentrations in cholestatic BRIC patients within 24 hours after endoscopic nasobiliary drainage (NBD). Relative amounts of phospholipids and bile salts in bile collected during NBD appeared to be normal, but phospholipids other than phosphatidylcholine (especially sphingomyelin) were increased. In conclusion, we propose that temporary endoscopic nasobiliary drainage should be considered in cholestatic BRIC patients.
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PMID:Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. 1679 78

Herpes gestationis, coined by Milton in 1872, or gestational pemphigoid is the most clearly characterized dermatosis of pregnancy. It is a rare vesiculo-bullous eruption that develops during the last trimester or even postpartum and creates severe pruritus. Its etiology is unknown, but it is considered as an autoimmune-mediated dermatosis closely related to the pemphigoid group. Herpes gestationis is associated with a positive C3 deposition along the base of the epidermis in salt-split skin, with increased frequency of HLA-DR3 and also the combination DR3 and DR4. It has a high risk of prematurity and disappears in the postpartum period within weeks or months.
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PMID:Herpes gestationis (Pemphigoid gestationis). 1648 84

Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder that usually develops in the third trimester of pregnancy and persists until delivery. The cause of ICP remains elusive, but there is evidence that mutations in the canalicular ABC transporter phospholipid flippase (MDR3) and in the bile salt export pump (BSEP) can predispose for the development of ICP. MDR3 and BSEP were investigated by gene sequencing and immunofluorescence microscopy in a patient with severe ICP of early onset. ICP was diagnosed in a patient in the first trimester of pregnancy with severe pruritus, elevated levels of bile salts, and 48-fold elevation of transaminase levels. A liver biopsy specimen showed diminished canalicular expression of the bile salt export pump BSEP, while the expression and localization of the phospholipid flippase MDR3 was normal. Gene sequencing revealed a homozygous MDR3 gene mutation (S320F). The patient was also homozygous for the common BSEP polymorphism V444A. Treatment with ursodeoxycholate normalized transaminase levels but could not prevent further elevation of bile salt levels and preterm delivery. The combined homozygous alterations of the canalicular transporters may explain the early onset and severity of ICP in this patient. The common BSEP polymorphism V444A accounts for the reduced canalicular BSEP expression. Reduced bile salt secretion through BSEP may explain the persistence of elevated bile salt levels and incomplete efficacy of ursodeoxycholate treatment.
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PMID:Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. 1689 Jun 14

Obstetric cholestasis (OC) presents with pruritus in the second half of pregnancy and is associated with increased risk of foetal distress, intra-uterine death and premature delivery. From a tertiary referral, renal-obstetric clinic, we report the occurrence of OC in 5/23 pregnancies of women with renal transplants maintained on ciclosporin treatment (European incidence 0.1-1.5% of pregnancies). All required premature delivery for foetal reasons at 33-37/40 (median 34/40). Ciclosporin, at therapeutic concentrations, inhibits bile salt excretion pump (BSEP) function in rats and humans. We propose that OC developed in our patients because the mild inhibition of the canalicular pumps by ciclosporin was only revealed in pregnancy when increases in progesterone metabolites overwhelmed pump function. We suggest that all pregnant women receiving ciclosporin should be closely monitored from the second trimester for the development of OC. If detected, enhanced foetal and maternal monitoring to optimize time of delivery and pregnancy outcome is required.
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PMID:Cholestasis in pregnancy associated with ciclosporin therapy in renal transplant recipients. 1708 Dec 34

Seborrheic dermatitis is a chronic from of inflammatory dermatitis characterized by erythema and desquamation with predominant localization on the face (nasolabial folds, eyebrows, hair-line and ears). It appears to be caused by proliferation of Malassezia yeasts. Lithium gluconate 8% gel (Lithioderm 8% gel) is the only drug containing topical lithium salt commercially available in France for the treatment of seborrheic dermatitis. The mechanism of action of topical lithium is not well known; it may act through anti-inflammatory and antifungal action. Efficacy and safety were assessed in 2 clinical studies, one versus placebo and the other versus ketoconazole 2% foaming gel using the same principal criterion defined as the rate of patients showing complete remission after 2 months of treatment (complete disappearance of both erythema and desquamation). Lithium gluconate 8% was significantly more effective than placebo and than ketoconazole 2% foaming gel and was well tolerated. Adverse events observed were cutaneous (burning sensation, erythema and pruritus), for the most part of mild severity. No cutaneous side effects contributed to those reported with the use of systemic lithium in psychiatric disorders were noted. Pharmacokinetic studies have shown that systemic absorption after topical application is low. Lithioderm 8% gel is applied twice daily over a recommended period of 2 months. It constitutes a new alternative in the treatment of facial seborrheic dermatitis, regardless of severity.
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PMID:[Lithium gluconate 8% in the treatment of seborrheic dermatitis]. 1748 54

The human infection known under the names cercarial dermatitis or swimmers' itch is generally associated with swimming in lakes all over the world, however, a number of outbreaks of cercarial dermatitis developing in salt or brackish waters are also reported. The disease presents as allergic reaction which is able to trap and eliminate the parasites in the skin. However, the infection can be linked to more than skin symptoms under certain circumstances. Recent studies on bird schistosomes have shown that during primary infections of noncompatible hosts (mice) the parasites may migrate through visceral and nervous tissues of mammals. Up to date, cercarial dermatitis has been mostly associated with the cercariae of bird schistosomes of the genus Trichobilharzia. Recent findings of new genera and species indicate, however, broader spectrum of causative agents of the disease with different life cycles, host specificity and pathogenicity.
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PMID:Schistosomes causing cercarial dermatitis: a mini-review of current trends in systematics and of host specificity and pathogenicity. 1789 34

Progressive familial intrahepatic cholestasis (PFIC) is a cholestatic liver disease of childhood. Pruritus secondary to increased bile salts in the serum may not respond to medical treatment. Partial external biliary diversion (PEBD), which reduces the serum bile salt level in the enterohepatic cycle, is used in the treatment of this symptom. In this study, our experience in performing this technique and the early promising results of PEBD in two children with PFIC are reported along with a review of the current literature. Partial external biliary diversion was performed by interposing a 15-cm jejunum between the gallbladder and abdominal wall. Biliary drainage through a stoma began in the fi rst postoperative day and reached 120-200 ml/day. Pruritus improved and then stopped on the 15th postoperative day, while the serum bile acid concentration also decreased. Partial external biliary diversion by jejunal interposition provides an excellent control of pruritus in children with PFIC with no adverse effects. A cholecystectomy should therefore be avoided in patients with PFIC.
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PMID:Partial external biliary diversion for the treatment of intractable pruritus in children with progressive familial intrahepatic cholestasis: report of two cases. 1866 16

Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. Main clinical manifestations include cholestasis, pruritus and jaundice. PFIC patients usually develop fibrosis and end-stage liver disease before adulthood. Serum gamma-glutamyltransferase (GGT) activity is normal in PFIC1 and PFIC2 patients, but is elevated in PFIC3 patients. Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due respectively to defects in ATP8B1 encoding the FIC1 protein, and in ABCB11 encoding the bile salt export pump protein (BSEP). Defects in ABCB4, encoding the multi-drug resistant 3 protein (MDR3), impair biliary phospholipid secretion resulting in PFIC3. Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis. MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates in whom genotyping could be proposed to confirm the diagnosis. Antenatal diagnosis can be proposed for affected families in which a mutation has been identified. Ursodeoxycholic acid (UDCA) therapy should be initiated in all patients to prevent liver damage. In some PFIC1 or PFIC2 patients, biliary diversion can also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation. Monitoring of hepatocellular carcinoma, especially in PFIC2 patients, should be offered from the first year of life. Hepatocyte transplantation, gene therapy or specific targeted pharmacotherapy may represent alternative treatments in the future.
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PMID:Progressive familial intrahepatic cholestasis. 1913 30

We report a case of an inflammatory variant of epidermolysis bullosa acquisita in a 53-year-old male, with itching blistering eruption on the trunk, armpits and limbs for six months. The skin biopsy specimen showed subepidermal blister with neutrophils. Direct immunofluorescence revealed linear depositions of IgG, IgA, IgM and C3 at the basement membrane; indirect immunofluorescence and salt Split Skin were negative. Antinuclear antibodies were also negative. Improvement of the blisters followed treatment with systemic corticotherapy and some lesions healed with milia. This is a rare presentation of epidermolysis bullosa acquisita, with inflammatory lesions at first.
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PMID:Inflammatory epidermolysis bullosa acquisita: case report. 1950 87


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