Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038362 (stomatitis)
 8,852 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Here we report on a girl who presented with failure to thrive, developmental delay, minor facial anomalies, stomatitis, skin rashes, macrocytosis, mild homocystinemia(uria), and methylmalonic acidemia(uria). Fibroblast studies showed abnormal intracellular cobalamin (vitamin B12) metabolism. Reduced incorporation of 14C from [14C] propionate and [14C] methyltetrahydrofolate into TCA-precipitable macromolecules reflected decreased synthesis of adenosylcobalamin and methylcobalamin respectively. The diagnosis of cb1F mutation was established by demonstrating the accumulation of unmetabolized free cyanocobalamin in fibroblasts and by lack of genetic complementation with fibroblasts from the only other known cb1F patient. The defect is in the lysosomal release of endocytosed cobalamin. Administration of hydroxocobalamin resulted in clinical and biochemical improvement but sudden death occurred at age 5 months. The absence of brain pathological changes suggests that early treatment may prevent the neurological complications in cobalamin cofactor deficiency.
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PMID:Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death. 259 18

A series of 322 patients presenting with non-ulcerative conditions of the oral mucosa was examined for haematological abnormalities. The series was divided into 5 major groups--lichen planus (103 patients), candidiasis (50), leukoplakia (30), stomatitis or glossitis (66), and a miscellaneous group (73). The prevalence of anaemia, and deficiences in iron, folate and vitamin B12 in each group were compared with that found in 100 controls. The prevalence of anaemia in the series as a whole was not significantly increased, but the prevalences of sideropenia (14.0%), folate deficiency (4.7%) and vitamin B12 deficiency (3.1%) were increased as compared with controls. The prevalence of a haematological abnormality was increased in patients with lichen planus (18/103 p less than 0.05), stomatitis (15/66 p less than 0.01) and particularly in patients with Candidiasis (18/50 p less than 0.001). In the stomatitis group, approximately 45% of the male patients were found to have some haematological deficiency compared with less than 20% of the female patients. The increased prevalence of haematological deficiences suggests that patients presenting with non-ulcerative conditions of the oral mucosa (particularly candidiasis and non-specific stomatitis) should be screened haematologically and that, in some patients with candidiasis, haematological deficiencies may predispose towards candidal infection.
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PMID:Haematological abnormalities in oral lichen planus, candidiasis, leukoplakia and non-specific stomatitis. 308 7

An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental delay. Cultured fibroblasts showed defective incorporation of both [14C]5-methyltetrahydrofolate and [14C]propionate into protein by whole cells and a decrease of methionine synthase activity in cell extracts. Despite excessive incorporation of [57Co]cyano-B12 by fibroblasts from the patient, free vitamin B12 was unable to efflux from lysosomes, and, therefore, synthesis of both adenosyl-B12 and methyl-B12 was impaired.
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PMID:New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria. 372 2

A full haematology screen was carried out on 398 patients under investigation for recurrent oral ulceration or stomatitis. Thirty-three patients were found to have lowered serum folate and/or red cell folate levels without iron deficiency. Of these only six were found to have a mean corpuscular volume (MCV) outside normal limits or to have recognisable erythrocyte abnormalities. No correlation was found between serum or red cell folate levels and the MCV. Eighteen patients were found to have lowered serum B12 levels without iron deficiency, of these seven were found to have a MCV outside normal limits. A significant negative correlation was found between serum B12 levels and the MCV. It is concluded that haematological screening in these cases should include estimations of serum folate, red cell folate and serum B12 levels even in the face of an apparently normal peripheral blood film.
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PMID:Stomatitis and recurrent oral ulceration: is a full blood screen necessary? 657 86

The authors review the literature on aetiopathogenesis and therapeutic management of recurrent aphthous stomatitis. The data regarding the role of genetic, nutritional and microbiological factors in the genesis of recurrent aphthous stomatitis has been particularly examined. Despite significant associations with some antigens HLA have been reported in Southern Europe, there is no clear genetic predisposition in recurrent aphthous stomatitis. Several studies have analyzed the importance of iron, folic acid and vitamin B12 deficiencies, gluten intolerance and sensitivity to certain foods in the triggering of recurrent aphthous stomatitis however the results have been controversial. Recently, it has been suggested that recurrent aphthous stomatitis could be caused by reactivation of varicella-zoster virus and/or cytomegalovirus but these viruses may be reactivated by the immunodysregulation known to underlie recurrent aphthous stomatitis. Moreover, antiviral drugs appear to have only an equivocal effect on recurrent aphthous stomatitis. Recurrent aphthous stomatitis is probably determined by immunological mechanisms although there actually no unifying hypothesis which attempt to integrate the results of the many immunologic studies on recurrent aphotous stomatitis. Moreover, the target antigen and the cause of recurrences of recurrent aphthous stomatitis are still unknown. As far as the management of this disease it is important to recognize recurrent aphthous stomatitis secondary to systemic diseases like Behcet's syndrome, gluten enteropathy and haematinics deficiencies. Subsequently, the symptoms can be reduced with several drugs (mainly topical corticosteroids) but there are no effective therapies preventing recurrences.
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PMID:[Recurrent aphthous stomatitis: current etiopathogenetic and therapeutic concepts]. 872 Dec 6

Stomatitis is a troublesome adverse effect of disease-modifying anti-rheumatic drug (DMARD) therapy in rheumatoid arthritis (RA) patients. This review presents data to examine the incidence, clinical features and consequences of DMARD-related stomatitis, and suggests an algorithm for its clinical management. The specific objectives of the two studies presented here were to determine the incidence of DMARD-related stomatitis and its effect on DMARD continuation, and secondly to identify the clinical and laboratory risk factors. We investigated two cohorts of patients: (i) a retrospective survey of data collected from drug monitoring clinics run for patients on DMARDs from 1987 to 1994 involving 1539 patients and 2394 drug exposures; (ii) a prospective study of 25 consecutive RA patients presenting with DMARD-related stomatitis compared to 29 RA controls with no history of DMARD stomatitis. The retrospective survey showed that 2% of DMARD patients stopped therapy because of stomatitis, but 55% of these were able to resume the same therapy. In the case control study. 24% of patients discontinued temporarily and 8% permanently. Cases of DMARD-related stomatitis differed from controls in that they had a higher incidence of previous mouth ulcers (40% vs 14%), they smoked less (8% vs 31%) and Schirmer's test was more often abnormal (44% vs 21%). There were no differences in RA severity, disease activity or oral hygiene. Haematinic deficiencies were equally common in cases and controls: 30% for iron, 8% for vitamin B12 and 24% for folic acid. Herpes simplex virus was involved in a minority (8%) of cases. In conclusion, the occurrence of stomatitis in RA patients on DMARD should not lead to cessation of drug therapy, but to a careful evaluation so that patients may be maintained on effective treatment.
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PMID:Management of oral complications of disease-modifying drugs in rheumatoid arthritis. 915 43

Forty-one patients with oral lesions and symptoms were enrolled in the study. Their ages ranged from 16 to 79 years with a mean age of 48.5 years. They were divided into two groups. Group I consisted of 25 patients with oral lichen planus and group II consisted of 16 patients with stomatitis or glossitis. Their complete blood counts, hemoglobin typing, serum and red cell folate, and serum vitamin B12 levels were studied. The results revealed low red cell folate levels in 11 out of 25 patients (44%) in group I and 9 out of 16 patients (56%) in group II. The serum vitamin B12 levels were within normal range in both groups. They were defined as having folate deficiency (n = 10), folate deficient erythropoiesis (n = 3) and folate depletion (n = 7). None of them had anemia nor macrocytes. Therefore, folate levels should be investigated in patients with oral lesions and symptoms especially those with risk factors of age, poor nutrition or systemic diseases. When suspected, daily folic acid supplements should be given.
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PMID:Folate and vitamin B12 levels in patients with oral lichen planus, stomatitis or glossitis. 1194 31

Iron deficiency anemia is a hypochromic anemia in which hemoglobin poor synthesis is due to a decrease in the amount of iron in the body. The decrease of iron quantity has many causes: insufficient intake of aliments rich in iron (meat, viscera, green vegetables), increased necessities during growth period, pregnancy, erythrocytes hyperregeneration, high-performance sportsmen, increased loss by digestive way, genito-urinary way, respiratory, hemorrhagic syndromes. Clinically, symptoms and signs specific to all types of anemia and those specific to lack of iron occur besides the symptoms and signs of the underlying disease: atrophic glositis, angular stomatitis, sideropenic dysphagia, pica, skin and nails changes. Laboratory investigations useful for diagnosis are: microcytic, hypochromic anemia, decreased serum iron level, total capacity of iron binding increased, medullar iron store absent, good response to iron therapy. Ferro-Folgamma is one of the most indicated medicines in iron deficiency anemia. Due to its components this medicine has many indications: insufficient alimentary intake concerning iron, folic acid, B12 vitamin, vegetarian alimentation, increased needs during growth period, iron deficiency anaemia secondary to chronic hemorrhages, malnutrition, anemias associated with chronic alcohol intake, preventive treatment of iron deficiency anemia and megaloblastic anemia during pregnancy and lactation.
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PMID:Treatment of iron deficiency anemia with Ferro-Folgamma. 1552 13

Anemia is a frequent extraintestinal manifestation of inflammatory bowel disease (IBD) that is commonly overlooked, despite its significant impact on quality of life. Characteristic symptoms include chronic fatigue, headache, and subtle impairment of cognitive function, although some less common symptoms include dyspnea, dizziness, pica, angular stomatitis, shortened attention span, and esophageal webs. Several types of anemia are associated with IBD, but iron deficiency anemia (IDA) accounts for the majority of cases and others include anemia of chronic disease, anemia associated with vitamin deficiency (vitamin B12 and folate), autoimmune anemia, and anemia caused by medication used to treat IBD. The diagnosis of IDA relies on laboratory blood tests. Therefore, these tests should be obtained on a regular basis because characteristic symptoms may be absent or not readily recognized by patients and their clinicians. Complete blood count may suffice; however, iron studies and serum vitamin levels may be necessary to differentiate between specific types of anemia. During the diagnostic process, it is important to consider coexistence of different types of anemia, especially if no response to therapy is noted. The therapy for anemia is directed towards treatment of the underlying inflammatory process and supplemental therapy, depending on the type of deficiency. Iron deficiency anemia is treated with iron preparations, first orally, and if unresponsive or if associated with untoward adverse events leading to decrease in adherence with the therapeutic regimen, with intravenous preparations. Intramuscular therapy has been abandoned due to high rate of complications. Intravenous therapy may be administered as a multiple-dose regimen (intravenous iron sucrose and gluconate) or as a single intravenous dose (iron dextran), which is associated with a higher risk of allergic infusion reactions and requires obligatory test dose administration. Treatment with erythropoietin is reserved for a select subgroup of patients with anemia of chronic disease. With appropriate treatment, the majority of patients with IBD will have significant improvement or resolution of anemia, which can lead to a better quality of life. However, a high index of suspicion should be maintained in order to identify the precise cause of anemia and to prescribe the appropriate therapy.
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PMID:Treatment of iron deficiency anemia in pediatric inflammatory bowel disease. 1616 7

Celiac disease, or gluten-sensitive enteropathy, is an immune-mediated disease of the small bowel that results in malabsorption. It classically presents with gastrointestinal symptoms including chronic diarrhea, weight loss, abdominal bloating and anorexia. It is becoming more frequently identified in asymptomatic patients with a diagnosis of deficiencies related to malabsorption of iron, folic acid, vitamin B12 and vitamin D. It is increasingly identified as a cause for early or refractory osteoporosis. Occasionally, celiac disease presents with cutaneous manifestations alone. Dermatitis herpetiformis is a well-recognized cutaneous manifestation of celiac disease. Other cutaneous manifestations include alopecia, angular stomatitis and aphthous ulcerations. Described here is a case of a 24-year-old woman who presented with intermittent urticaria and gastrointestinal complaints. She was found to have celiac disease on small-bowel biopsy. Both her gastrointestinal symptoms and urticaria resolved when she was put on a gluten-free diet, suggesting that her urticaria was a cutaneous manifestation of celiac disease.
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PMID:Chronic urticaria: a cutaneous manifestation of celiac disease. 1660 61


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