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)

We report here the long-term sequelae in 22 patients with L-tryptophan-induced eosinophilia-myalgia syndrome (EMS). The mean follow-up was 23 months (range, 5 to 40 months). Myalgia, rash, pruritus, edema, and respiratory symptoms often improved with the use of corticosteroids, but fatigue and weakness persisted in most cases. Other abnormalities that commonly persisted were arthralgia, muscle-cramping, peripheral neuropathy, and thickened skin. One patient had chronic pulmonary hypertension. These findings indicate that for most patients, EMS is a chronic disorder.
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PMID:Eosinophilia-myalgia syndrome: the aftermath. 152 46

An association between the ingestion tryptophan and a syndrome characterized by scleroderma-like skin abnormalities, fasciitis, and eosinophilia has recently been recognized in the United States. We report the clinical and histopathological findings in nine patients and the results of biochemical analyses of tryptophan metabolism in seven patients with this syndrome. Edema of the extremities, frequently accompanied by pruritus, paresthesia, and myalgia, developed in the nine patients (six women and three men; age range, 30 to 66 years) 1 to 18 months after the start of therapy with tryptophan (1.5 to 3.0 g daily) for insomnia, depression, or obesity. Five patients were taking drugs (benzodiazepines) known to inhibit hypothalamic-pituitary-adrenal function, and one had adrenal insufficiency. All had blood eosinophilia in the acute phase of their illness (mean eosinophil count [+/- SD], 3.62 +/- 2.87 X 10(9) cells per liter). All had histopathological changes in the dermis and subcutaneous tissue typical of scleroderma, and seven patients had eosinophils. The fascia was inflamed and fibrotic, and adjacent skeletal muscle often showed perifascicular inflammation. Tryptophan was discontinued in all patients, and eight received prednisone. The cutaneous symptoms improved, but only two patients had complete resolution of their illness. The patients had plasma levels of tryptophan before and after an oral dose of tryptophan that were similar to those in normal subjects. Plasma levels of L-kynurenine and quinolinic acid, which are metabolites of tryptophan, were significantly higher in four patients with active disease than in three patients studied after eosinophilia had resolved or in five normal subjects (P less than 0.001)--findings consistent with the activation of the enzyme indoleamine-2,3-dioxygenase. This illness resembles eosinophilic fasciitis and probably represents one aspect of the recently reported eosinophilia-myalgia syndrome. The development of the syndrome may result from a confluence of several factors, including the ingestion of tryptophan, exposure to agents that activate indoleamine-2,3-dioxygenase, and possibly, impaired function of the hypothalamic-pituitary-adrenal axis.
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PMID:Scleroderma, fasciitis, and eosinophilia associated with the ingestion of tryptophan. 231 25

The eosinophilia-myalgia syndrome is a newly described disease associated with ingestion of a contaminant or byproduct of the amino acid L-tryptophan. Patients typically present with intense myalgias, especially of the extremities, and commonly suffer from skin and subcutaneous manifestations (edema and induration of the skin, morphea-like lesions, pruritus). Less frequent findings are cardiorespiratory involvement (cough, dyspnea, pulmonary infiltrates) and neurologic disease (ascending polyneuropathy). Laboratory findings include blood eosinophilia (greater than 10(9) cells per liter), normal to slightly elevated serum aldolase levels, and negative studies for connective tissue diseases (normal erythrocyte sedimentation rate, negative antinuclear antibodies). Tissue damage in eosinophilia-myalgia syndrome is likely related to infiltration by eosinophils with subsequent release of toxic molecules such as major basic protein. Management in severely ill patients includes administration of corticosteroids.
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PMID:Eosinophilia-myalgia syndrome. 189 58

Recently, the ingestion of tryptophan has been associated with eosinophilia-myalgia syndrome, which is characterized by eosinophilia, myalgias, and several less consistently reported findings. We treated 13 patients who exhibited clinical features of eosinophilic fasciitis who were taking high-dose tryptophan before the onset of clinical symptoms. Twelve patients exhibited eosinophilia, with eosinophil counts ranging from 0.13 to 0.88. The remaining patient was taking oral corticosteroids when her eosinophil count was determined. Eight patients complained of myalgias. Other symptoms included arthralgias, pruritus, cutaneous burning, weakness, fever, rashes, malaise, edema, muscle spasms, and alopecia. 5-Hydroxyindoleacetic acid levels were elevated in four of the eight urine specimens that were tested. Our findings suggest that previously diagnosed cases of eosinophilic fasciitis may represent variants of tryptophan-associated eosinophilia-myalgia syndrome. Derangements in the metabolism of tryptophan may play a role in sclerotic diseases.
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PMID:Eosinophilic fasciitis associated with tryptophan ingestion. A manifestation of eosinophilia-myalgia syndrome. 199 Sep 86

Ten women with recurrent migraine-like headache, flush, urticaria and itching excoriations were put on a protein/tryptophan reduced diet. The 5-HT uptake kinetics in platelets, the frequency of headache attacks and skin symptoms were recorded. On customary food the 5-HT uptake kinetics were severely disturbed. On diet, the platelet 5-HT uptake was normalized and, in parallel, the migraine-like symptoms and skin manifestations were reduced. The parallel between the improvement in active 5-HT uptake by platelets and clinical symptoms during dietary protein/tryptophan restriction supports the idea that impairment of the 5-HT uptake in platelets is a contributory factor in the pathogenesis of migraine-like headache and other 5-HT related symptoms.
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PMID:Effects of dietary protein-tryptophan restriction upon 5-HT uptake by platelets and clinical symptoms in migraine-like headache. 664 Jun 53

Pain perception and tolerance thresholds of 30 normal subjects were determined by electrical stimulation of dental pulps before and after dietary manipulation which included either tryptophan supplementation or placebo. Perception threshold levels were similar in tryptophan and placebo subjects; however, pain tolerance levels were significantly higher in the group receiving tryptophan. Side effects such as nausea, skin itching, weight loss and mood elevation were more common in the tryptophan group than in the placebo group.
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PMID:Alteration of human pain thresholds by nutritional manipulation and L-tryptophan supplementation. 713 33

A unique form of congenital ichthyosis in two unrelated patients is described and characterized histologically by separation of the epidermis between the stratum corneum and the stratum granulosum. The clinical history, genetics, serially performed skin biopsies, and biochemical studies are reviewed. This form of ichthyosis is different from previously described entities. Lifelong peeling of the general body epidermis, pruritus, short stature, easily removed anagen hairs, and the ability to easily mechanically separate stratum corneum from the rest of the epidermis characterize the syndrome. In two families with this disorder, autosomal recessive inheritance is suggested. A low plasma tryptophan level as present in two patients with this disease. This inherited disorder of the epidermis was first described in 1924 before the genetics and histology of ichthyosis were extensively studied and is a distinct genetic and clinical entity to be considered in unusual cases of ichthyosis.
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PMID:The peeling skin syndrome. 714 68

Seven women and one man aged from 51 to 70 years suffered from eosinophilia-myalgia syndrome after taking medicines containing tryptophan for depression or sleep disorders; the total duration of intake ranged from three to 106 months and the average daily dose was 1312 mg. All the patients had muscle pains and skin lesions resembling scleroderma together with impairment of general well being; six of them had high eosinophil counts of up to 2,600 cells/microliters (mean 1,629); other symptoms were weight loss, pruritus, fever, dyspnoea and sensory abnormalities. Discontinuation of tryptophan combined with systemic treatment with prednisone in doses of 32 or 20 mg/d for 4 to 16 weeks soon brought the eosinophil counts down, but the skin lesions, muscle pains and other symptoms showed little improvement over a follow-up period averaging 17.1 months. Treatment with penicillin G (20 mega-units daily for 14 days), azathioprine (100 mg daily for 2 months) or cyclosporin (2.5 mg/kg.day) was tried in some cases but had no significant effect.
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PMID:[The tryptophan-associated eosinophilia-myalgia syndrome. A clinical follow-up of 8 patients]. 844 Jan 61

Pellagra is a systemic disturbance caused by a cellular deficiency of niacin, resulting from inadequate dietary nicotinic acid and/or its precursors, the essential amino-acid tryptophan. In Europe and North America cases of pellagra are rarely encountered, but in some developing countries this disease is frequent, and is the most frequent clinical feature of nutritional deficiency of adult. The principal causes of pellagra are: nutritional niacin deficiency; chronic alcoholism; gastro-intestinal malabsorption; some medications (5-fluoro-uracil, isoniazid, pyrazinamide ehtionamide, 6-mercaptopurine, hydantoins, phenobarbital and chloramphenicol). The diagnosis of pellagra is based on the patient's history and the presence of "3 D syndrome": dermatitis, diarrhea, and dementia. The dermatitis caused by pellagra is a bilaterally symmetrical erythema at the sites of solar exposure. The dermatitis begins in the form of an erythema with acute or intermittent onset gradually changing to an exsudative eruption on the dorsa of the hand, face, neck, and chest with pruritus and burning. Acute dermatitis of pellagra resembles sunburn in the first stages, sometimes with vesicles and bullae. The gastro-intestinal disturbances are: anorexia, nausea, epigastric discomfort and chronic or recurrent diarrhea. Anorexia and malabsorbative diarrhea lead to a state of malnutrition and cachexia. Stools are typically watery, but occasionally can be bloody and mucoid. Neuropsychologic manifestation included photophobia, asthenia, depression, hallucinations, confusions, memory loss and psychosis. As pellagra advances, patient become disoriented, confused and delirious; then stuporous and finally die. Pathological changes in the skin is non-specific, there are no chemical tests available to definitively diagnose pellagra. However low levels of urinary excretion of N-methylnicotinamide and pyridone indicates niacin deficiency. The treatment of pellagra consisted to exogenous administration of niacin or nicotinamide cures. Topical management of skin lesions with emollients may reduce discomfort. The therapy should also include other B vitamins, zinc and magnesium as well as a diet rich in calories. The prevention is based in the nutritional education (food sources of niacin: eggs, bran, peanuts, meat, poultry, fish, red meat, legumes and seeds), and the eviction of alcohol.
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PMID:[Pellagra]. 1620 85

Epidermolysis bullosa (EB) pruriginosa, characterized by severe itching and the presence of nodular prurigo-like or lichenoid lesions, is a rare clinical type of dystrophic EB. Mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils, have been implicated in the pathogenesis of the disorder. In the present study, we screened a Chinese family with EB pruriginosa for COL7A1 mutations by PCR amplification of genomic sequences and direct nucleotide sequencing. The mutation consists of a G-->T substitution at nucleotide 6724 in exon 85, which leads to the substitution of glycine by tryptophan at codon 2242. This report adds new variants to the known COL7A1 mutations underlying EB pruriginosa, and provides the basis for genetic counselling and prenatal diagnosis for affected families.
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PMID:A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. 1948 43


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