Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Plasma or erythrocyte levels of ten nutrients (vitamins A, C, B12 and B6; folate; thiamine; riboflavin; zinc; copper; iron) were assayed in 73 patients with various forms of inherited epidermolysis bullosa (EB). Whereas the mean level for each nutrient was within its normal range, deficient levels were noted in individual EB subsets for selected nutrients. Notable abnormalities included low levels of plasma iron and zinc (in junctional EB and recessive dystrophic EB), vitamin C (primarily in EB simplex), vitamin A (in junctional and recessive dystrophic EB), vitamin B12 (primarily in EB simplex), and vitamin B6 (especially in recessive dystrophic EB). With the exception of low plasma iron and zinc levels in junctional and recessive dystrophic EB, however, only a minority of patients in any of the EB subsets had low levels of most of the other nutrients, and an apparent correlation with malabsorption was possible with only selected nutrients.
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PMID:Blood vitamin and trace metal levels in epidermolysis bullosa. 292 44

Six personal cases of digestive tract involvement in dystrophic recessive epidermolysis bullosa are reported, and the relevant literature is reviewed. The study deals with the clinical aspects of these cases (buccal and dental lesions, digestive symptoms, effects on nutritional status; table I), as well as with their biochemical (table II), radiological and endoscopic aspects (table III, fig. 1 and 2). All patients presented with bucco-dental lesions, including two cases of congenital abnormalities: one with malposition and dysgenesis of the teeth, the other with dysplasia of the enamel in a patient whose dystrophic skin disease was proven by electron microscopic study. The oesophagus was involved in six cases, with tight concentric stenosis (2 cases), retrocricoidal stenosis (1 case) and oesophagitis (2 cases). No gastro-duodenal or intestinal lesions were detected. A case of constipation was related to anal involvement. The patients' nutritional status was investigated clinically and biochemically. A search for intestinal malabsorption by means of specific tests was conducted in 2 patients and proved negative. A study of the literature provided data on the nature and specificity of dental lesions. The morphological features, complications and physiopathology of oesophageal stenoses are described The existence of gastrointestinal lesions is discussed. Nutritional repercussions are presented and their causes are discussed. Attention is paid to the medical and surgical treatments of these lesions.
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PMID:[Digestive involvement in dystrophic recessive epidermolysis bullosa. Apropos of 6 cases and review of the literature]. 332 46

The clinical features of epidermolysis bullosa (EB) include oral, pharyngeal, gastrointestinal, and total-body blistering. This results in the potential for decreased oral intake, malabsorption, anemia, and depressed visceral protein stores, and a multifactorial etiology for the development of malnutrition and growth retardation. Thus, it was the purpose of this study to document the nutritional and metabolic profile of seven children with junctional or recessive dystrophic EB as compared to seven age- and sex-matched controls. Each child underwent a comprehensive nutritional assessment, including evaluation of anthropometric, dietary, and biochemical values and determination of resting energy expenditures. This study demonstrated that subjects with EB are statistically different for all anthropometric values studied and represent a population suffering from the effects of acute and chronic malnutrition. Nutrient deficiencies were reported for zinc, magnesium, calcium, potassium, and iron; vitamines A, D, E, B1, B12, and B6; protein, and calories. Comparison of laboratory values revealed significantly lower values for hemoglobin, hematocrit, and zinc. This research illustrates the magnitude of the growth deficits, and nutrient and biochemical deficiencies present in children with EB. The results provide a strong argument for the value of nutritional assessment and intervention and their potential impact in this population. Optimizing nutritional status may be one viable method of improving the morbidity and mortality associated with the disease and ultimately improving the overall quality of life.
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PMID:Nutritional and metabolic profile of children with epidermolysis bullosa. 338 Jul 59

Vitamin A is necessary to maintain the integrity and the differentiation of epithelia of the skin and adnexa. Evident deficiency of vitamin A in chronic diseases, malabsorption and liver affections may result in skin xerosis, follicular keratosis, and metaplasia of mucous membranes. The remarkable toxicity of vitamin A in high doses does not recommend its usage in dermatology. On the contrary the employ of retinoids, synthetic derivatives of vitamin A, brings to excellent results. These vitamin A compounds are much more effective, even if they show important side-effects. Etretinate and isotretinoin are widely used in psoriasis, keratinization disorders, and severe acne. Vitamin E functions in skin biology are not totally known. Vitamin E is used in the treatment of dermolytic recessive epidermolysis bullosa, with controversial results.
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PMID:[Vitamin A and vitamin E in dermatology]. 391 47

The rheumatological, ophthalmological- and dermatological complications are the most common ones among the extraintestinal manifestations of inflammatory bowel diseases (IBD). The incidence of skin manifestations is estimated to be 15-20% in case of Crohn's disease and 10% in case of ulcerative colitis. The so called specific lesions (perianal fissures, metastatic Crohn's disease), which are part of the skin symptoms associated with IBD, show a intimate connections with the bowel disease itself, as they histologically show granulomatous inflammation with epitheloid cells, similar to the ones seen in the intestines. The reactive lesion (erythema nodosum, pyoderma gangraenosum), that form the second main group of skin changes, can also be found is other systemic diseases, but they are more frequently associated with IBD than the average. Cutaneous manifestations may occur due to malabsorption or drug therapy. Finally, there are dermatoses (epidermolysis bullosa acquisitia, acne fulminans) which have a still questionable connection with IBD. Authors present an overview of the IBD's possible skin and mucosal symptoms and their prognostic significance and they demonstrate some rare common skin manifestations found among the IBD patients of Borsod Country (580 ulcerative colitis, 265 Crohn's disease) in the last 25 years.
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PMID:[Cutaneous and mucosal manifestations of inflammatory bowel diseases]. 1093 82

A 25-year-old woman with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa had generalized blistering, scarring and milia since birth. In the course of the disease, acral pseudosyndactyly developed, and the patient suffered from corneal erosions, oesophageal strictures, malabsorption, recurrent severe pneumonias and nephrotic syndrome. In addition, she had severe anaemia, sideropaenia, hypocalcaemia, heavy proteinuria and hypoalbuminaemia. A rapidly growing skin squamous cell carcinoma developed on the neck that spread to axillary and cervical lymph nodes. Recurrent hypocalcaemic tetanic convulsions and dyspnoea and a pneumonia refractory to antibiotics led to the premature demise of the patient. Autopsy revealed extensive amyloidosis of the renal, hepatic and splenic tissues. AA type amyloid deposits were detected in the renal glomeruli and in the lung, explaining the patient's unusually severe pulmonary infections. In essence, the patient had severe recessive dystrophic epidermolysis bullosa, complicated by squamous cell carcinoma, recurrent pneumonias and nephrotic syndrome due to secondary amyloidosis of the kidney and lung. The possibility of secondary pulmonary amyloidosis should be considered in severe dystrophic epidermolysis bullosa patients with recurrent pulmonary infections.
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PMID:Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. 1265 5

Almost one-third of patients with inflammatory bowel disease (IBD) develop skin lesions. Cutaneous disorders associated with IBD may be divided into 5 groups based on the nature of the association: specific manifestations (orofacial and metastatic IBD), reactive disorders (erythema nodosum, pyoderma gangrenosum, pyodermatitis-pyostomatitis vegetans, Sweet's syndrome and cutaneous polyarteritis nodosa), miscellaneous (epidermolysis bullosa acquisita, bullous pemphigoid, linear IgA bullous disease, squamous cell carcinoma-Bowen's disease, hidradenitis suppurativa, secondary amyloidosis and psoriasis), manifestations secondary to malnutrition and malabsorption (zinc, vitamins and iron deficiency), and manifestations secondary to drug therapy (salicylates, immunosupressors, biological agents, antibiotics and steroids). Treatment should be individualized and directed to treating the underlying IBD as well as the specific dermatologic condition. The aim of this review includes the description of clinical manifestations, course, work-up and, most importantly, management of these disorders, providing an assessment of the literature on the topic.
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PMID:Management of cutaneous disorders related to inflammatory bowel disease. 2471 96