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)

A 2-week-old baby boy had a periorificial dermatitis that progressively worsened, as did his failure to thrive. Decreased serum zinc, proteins, and amino acids, as well as an increase in fecal fat, were noted. The child's dermatitis responded promptly to nutritional therapy. Sweat chloride levels were markedly elevated. The dermatitis, occasionally seen as a presenting feature of cystic fibrosis, is most likely the result of malabsorption caused by pancreatic exocrine dysfunction.
J Am Acad Dermatol 1991 Nov
PMID:Cystic fibrosis presenting with periorificial dermatitis. 176 67

Deficiency of nutritional iron represents a public health problem recognized throughout much of the world. The overall prevalence rate of patients with iron deficiency (ID) who need supplementary iron therapy ranges markedly from less than 10% to as high as 70% among various ethnic and socioeconomic groups. Dermatologically, the iron-deficit state can be a secondary condition or trigger a wide range of mucocutaneous alterations. Early appreciation of adverse cutaneous manifestations of ID seems to have commensurate significance not only in predicting the presence of undiagnosed ID, but also for providing specified avenues for rational therapeutic approaches to patients with ID. Dermatopathic anemia has attracted the attention of clinicians because ID was found to be a metabolic consequence of skin diseases such as erythroderma, exfoliative dermatitis, psoriasis, eczema, and many others. Previous studies had suggested that iron may be lost in accelerated turnover of the keratinocyte from scaling; currently, malabsorption of iron is accepted implication accounting for dermatopathic anemia. However, mucocutaneous affections adversely manifested by ID have not been extensively reviewed and published in the current dermatologic literature because of the potentially benign course of the adverse conditions and the limited degree of clinical expression. Therefore, changes in hair, nails, mucosa and tongue, pruritus, chronically sustained inflammation, dermatitis herpetiformis, and photodermatitis are among the adverse cutaneous sequelae whose relation to ID are highlighted and discussed in the present review. Because of their clinical and diagnostic importance, other extracutaneous physical signs of ID, such as blue sclerae and pica, are also included in this review.(ABSTRACT TRUNCATED AT 250 WORDS)
Semin Dermatol 1991 Dec
PMID:Iron deficiency: structural and microchemical changes in hair, nails, and skin. 176 60

During the period 1985-88, 30 children with a chronic blistering dermatosis were studied. Of these 25 were found to have chronic bullous dermatosis of childhood (CBDC) and five had bullous pemphigoid (BP). No case of dermatitis herpetiformis (DH) was seen in the same period. Except for the difference in immunofluorescence (IMF) there were no definite clinical, histological or therapeutic differences between the two groups. All the children were Africans with the exception of one Indian girl. Their ages ranged from 1 year to 12 years with a mean of 5 years. The females outnumbered the males in a ratio of 3:2. All children had a generalized eruption consisting of large tense blisters arising on normal skin. The blisters were more profuse on the lower trunk, pelvic region and limbs. Face and scalp were also affected. Histological features of BP and DH were seen. Direct IMF in the CBDC patients showed linear deposits of IgA at the basement membrane zone (BMZ) while linear deposits of IgG were seen in the BP group. Complement and IgM were also seen in some cases in both groups. Sixty per cent of the CBDC patients showed IgA BMZ antibodies by indirect IMF. There were no symptoms or signs of malabsorption. Serum vitamin B12 and folate levels were normal. HLA studies showed the B-8 antigen in five of the 20 patients studied. Therapy was difficult in most cases. All patients haemolysed on therapeutic doses of dapsone, sulphapyridine and/or prednisone had to be added. Follow-up was generally poor as six patients failed to return after discharge from hospital.(ABSTRACT TRUNCATED AT 250 WORDS)
Clin Exp Dermatol 1991 May
PMID:Chronic bullous dermatosis of childhood--clinical and immunological features seen in African patients. 193 64

A pair of monozygous male twins concordant for dermatitis herpetiformis (DH) and gluten-sensitive enteropathy (GSE) are reported. Presentation of DH in the twins was asynchronous, with one affected at the age of 20, the other at the age of 27. Neither twin had symptoms of malabsorption but duodenojejunal villous atrophy was confirmed histologically.
Clin Exp Dermatol 1991 Jan
PMID:Dermatitis herpetiformis in monozygous twins--concordance for dermatitis herpetiformis and gluten-sensitive enteropathy. 202 37

The class II major histocompatibility complex antigen deficiency syndrome is a rare immunodeficiency disease associated with defective expression of the class II antigens encoded for by the major histocompatibility complex. Clinically, this syndrome is manifest as a combined immunodeficiency presenting early in life, and affected individuals are susceptible to a variety of severe and/or opportunistic infections. Chronic, severe diarrhea and malabsorption are also characteristically found, and death is common within the first few years of life. Although the precise molecular lesions responsible for the failure of membrane antigen expression in this syndrome have not yet been identified, the pathogenetic mechanisms involve regulatory defects in the transcription of structural genes encoding for class II antigens. The absence of class II MHC antigens results in profound abnormalities in lymphocyte function and differentiation. Of central importance is the defective MHC-restricted interactions between CD4+ "helper" T lymphocytes and the various types of antigen-presenting cells found in the skin and elsewhere. The absence of class II MHC antigens also appears to alter the ability of affected B cells to be activated by a variety of membrane-mediated stimuli, and it profoundly disrupts both the intrathymic development and post-thymic differentiation of immunoregulatory T cells. This "experiment of nature" thus demonstrates the critical role of class II MHC antigens in the proper development and function of the immune system.
J Invest Dermatol 1990 Jun
PMID:The class II major histocompatibility complex antigen deficiency syndrome: consequences of absent class II major histocompatibility antigens for lymphocyte differentiation and function. 219 Oct 47

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.
Arch Dermatol 1989 Mar
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.
Ann Dermatol Venereol 1987
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.
Pediatr Dermatol 1988 Feb
PMID:Nutritional and metabolic profile of children with epidermolysis bullosa. 338 Jul 59

Thirty-three patients with alcoholic cirrhosis (AC), selected on widely recognized criteria (16, 57), were investigated prospectively for cutaneous manifestations of zinc deficiency. The patients were divided into 3 groups: group A (n = 12): AC without skin lesions; group B (n = 12): AC with skin lesions responsive to a zinc-free topical treatment or resistant to enteral zinc sulfate intake; group C (n = 9): AC with skin lesions cured by oral zinc replacement therapy alone. The lesions observed in group C were studied microscopically. Data concerning zinc metabolism (Zn concentrations in plasma, red cells, urine and hair; alkaline phosphatase values), biochemical criteria of AC (plasma serum-albumin concentration, IgA/transferrin ratio) and a malabsorption test (xylosemia 120 min after oral absorption of D-xylose 25 g) were compared by the variance analysis method. A control group (D, n = 12) was used as reference. Few cases of cutaneous manifestations of zinc deficiency in AC patients have been published. In more than one half of the 15 or so we found in the literature, an aggravating factor (total parenteral nutrition, digestive tract surgery) had to be taken into account. In this prospective study 9 new cases in which AC was the only cause of zinc deficiency are reported. A clinical picture similar to acrodermatitis enteropathica with peribuccal bullous lesions was observed in only one patient. In all other cases the patients presented with a cracked and reticulated eczema on the extensor aspect of the limbs and (often erosive) in the perianal and genital regions. The eczema was associated with cheilitis, glossitis, stomatitis, alopecia and, seldom, ungual Beau's lines. Disorders of behaviour, diarrhoea and bouts of lever regressing under zinc replacement therapy were frequent. Histology was not very specific, except for the presence of necrotic areas in the stratum germinativum, sometimes associated with small subcorneal pustules containing altered polymorphonuclears. In every case, it was the rapid regression of symptoms under zinc sulfate treatment that confirmed the diagnosis. Plasma zinc concentrations were most significantly decreased in all AC groups as compared to controls (61.2 +/- 19.4 vs 97.8 +/- 10.4 micrograms/100 ml) and also in AC patients with skin manifestations of zinc deficiency as compared to the other AC patients (44.4 +/- 9.2 vs 66.5 +/- 18.8 micrograms/100 ml) table V). Changes in serum-albumin levels and in hepatocellular function were parallel to changes in plasma zinc concentrations.(ABSTRACT TRUNCATED AT 400 WORDS)
Ann Dermatol Venereol 1987
PMID:[Cutaneous manifestations of zinc deficiency in ethylic cirrhosis]. 357 31

Some aspects of humoral immunity and the status of the jejunal mucosa were investigated in 22 patients with classical dermatitis herpetiformis (DH). The mucosal status was characterized on the basis of immuno- and histopathological findings and functional analysis of malabsorption and disaccharidase activity. There was no significant abnormality in the serum immunoglobulins, whereas the IgA and C3 contents of the circulating immune complexes (established by polyethylene glycol precipitation and inverse radial immunodiffusion techniques) were significantly elevated. Polyorgan-specific autoantibodies of IgG type were present in the sera of 95% of the 22 patients. Functional analysis of the gastrointestinal tract revealed some abnormality in all of the 18 cases examined, while direct immunofluorescence studies demonstrated an increased number of subepithelial IgA lymphoid cells in all of the 15 cases examined. These findings did not correlate well with the jejunal mucosal morphology. This study supports the view that IgA deposited in the skin is formed in the gut.
Arch Dermatol Res 1987
PMID:Dermatitis herpetiformis: relation between circulating immune complexes, small-intestinal mucosal status, and immunohistopathological findings. 363 36


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