Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34-year-old patient has experienced spider naevus on her right arm since the age of 10. Later, when she discontinued taking the oral contraceptives (OCs) containing norgestrel and ethinyl estradiol, which she had taken for five years, suddenly several typical spider naevi appeared on her neck and both underarms. Otherwise she was free of symptoms and not abusing alcohol. Blood test showed a slight increase of gamma-GT of 41 U/l, which was still normal. The question arose whether the discontinuation of OCs caused the appearance of spider naevi, which typically is connected with acute or chronic liver disease. Typical sites are the face, the upper chest, the neck, shoulders, underarms, and the back of the hands. The most likely explanation in this case theoretically would be a hormone rebound effect after the cessation of the OC use, but there are no clinical studies available to confirm such a hypothesis. She had neither acute nor chronic liver disease. Differential diagnosis could corroborate the slightly increased, isolated value of gamma-GT due to long-term use of OCs containing estrogen because of enzyme induction. Anamnesis should also determine any occupational or external exposure to toxic substances (e.g., solvents) and other causes of liver disease should also be excluded (hemochromatosis, primary biliary cirrhosis, primary sclerosing cholangitis). In addition, the possible role of a wide variety of nonhepatological causes of the increased value should be examined (hepatobiliary illnesses and others like anorexia nervosa, alcohol abuse, and drugs). For the time being a sonographic examination is recommended within six months followed by a gamma-GT test every two months. In case the elevated value persists further examinations should verify possible causative factors.
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PMID:[Spider naevi after discontinuation of oral contraceptives]. 863 6

When cholestatic liver disease is present, liver ultrasound should be performed to ascertain if cholestasis is extrahepatic or intrahepatic. If bile ducts appear dilated and the probability of interventional treatment is high, endoscopic retrograde cholagio-pancreatography (ERCP) or trans-hepatic cholangiography (THC) should be the next step. If the probability of interventional therapeutics is low, cholangio-MRI should be performed. Once bile duct dilation and space occupying lesions are excluded, a work up for intrahepatic cholestasis should be started. Some specific clinical situations may be helpful in the diagnostic strategy. If cholestasis occurs in the elderly, drug-induced cholestatic disease should be suspected, whereas if it occurs in young people with risk factors, cholestatic viral hepatitis is the most likely diagnosis. During the first trimester of pregnancy cholestasis may occur in hyperemesis gravidorum, and in the third trimester of gestation cholestasis of pregnancy should be suspected. A familial history of recurrent cholestasis points to benign recurrent intrahepatic cholestasis. The occurrence of intrahepatic cholestasis in a middle-aged woman is a frequent presentation of primary biliary cirrhosis, whereas primary sclerosing cholangitis should be suspected in young males with inflammatory bowel disease. The presence of vascular spider nevi, ascites, and a history of alcohol abuse should point to alcoholic hepatitis. Neonatal cholestasis syndromes include CMV, toxoplasma and rubinfections or metabolic defects such as cystic fibrosis, alpha1-antitrypsin deficiency, bile acid synthesis defects, or biliary atresia. The treatment of cholestasis should include a management of complications such as pruritus, osteopenia and correction of fat soluble vitamin deficiencies. When hepatocellular failure or portal hypertension-related complications occur, liver transplantation should be considered.
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PMID:Diagnostic and therapeutic approach to cholestatic liver disease. 1497 98

Pemphigus vulgaris (PV) is an autoimmune disease of the skin and mucous membranes characterized by suprabasal acantholysis and formation of blisters and erosions due to generation of IgG autoantibodies directed against desmosomal proteins. Tissue expanders are devices that, through controlled mechanical overstretch, are capable of generating new skin that is used to cover wounds or extended surgical defects. We report the case of a 13-year-old girl suffering from Crohn's disease (CD) and primary sclerosing cholangitis (PSC) who developed PV after application of a tissue expander for surgical removal of a giant congenital melanocytic nevus (GCMN). To the best of our knowledge, the case presented here is the first report of PV possibly associated with the application of a tissue expander and also the first report of coexistence of PV with either PSC or with PSC and CD in the same patient. Triggering or acute exacerbation of PV may be considered a possible side-effect of tissue expander application, especially in patients with a genetic predisposition for pemphigus and/or other autoimmune diseases. In view of the increasing use of tissue expanders in clinical practice, physicians should be aware of this rare side-effect in order to promptly diagnose it.
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PMID:Pemphigus vulgaris possibly associated with application of a tissue expander in a patient with Crohn's disease and primary sclerosing cholangitis. 3185 71