Eye manifestations in acrodermatitis enteropathica.
A case of acrodermatitis enteropathica is presented that is the first to manifest punctal stenosis, the fourth to show corneal changes, and the sixth to survive into adulthood.
Acrodermatitis↗
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Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease.
We describe a patient with maple syrup urine disease in whom an acrodermatitis enteropathica-like syndrome developed while he was receiving a branched-chain amino acid-free formula. Iatrogenically induced isoleucine deficiency developed and resulted in a decreased protein accretion and persistent increase in the plasma concentrations of leucine. A rapid clinical response to isoleucine supplementation was noted. This observation underscores the risks of using amino acid-free formulas without adequate supplementation of deficient amino acids.
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Acquired zinc deficiency. Cutaneous manifestations typical of acrodermatitis enteropathica.
A patient given long-term total parenteral nutrition acquired a zinc deficiency severe enough to cause typical cutaneous manifestations of acrodermatitis enteropathica. This report, the first detailed one, to our knowledge, of such an association, adds to the accumulating evidence that supplementation of trace elements is needed in long-term parenteral nutrition.
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Serum zinc levels in heterozygous carriers of the gene for acrodermatitis enteropathica: identification of a carrier state is not possible.
Three cases of acrodermatitis enteropathica (a.e.) from two nonrelated families are described. Two siblings had characteristic symptoms of a.e. in childhood. Both survived to adulthood without treatment, at which time the clinical picture became uncharacteristic of a.e. Even so, the serum zinc levels confirmed the diagnosis in both cases. The third case showed classic symptoms of a.e.; the patient had a greatly reduced serum zinc level and responded at once to treatment with zinc sulphate. Heterozygous carriers of the gene for a.e. have often had slightly reduced serum zinc levels. The value of this test could probably be improved by correcting the normal range of serum zinc for factors known to influence this, such as the patient's age and serum albumin level. The normal range ought also to be corrected for diurnal and postprandial variations of serum zinc.
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The therapeutic effect of amphotericin in acrodermatitis enteropathica: hypothesis and implications.
A nine year-old girl with acrodermatitis enteropathica developed typical clinical and biochemical features of zinc deficiency on two occasions while on an oral zinc supplement. On both occasions, these features responded immediately when she was treated with amphotericin B lozenges. Studies in vitro showed that amphotericin increases the permeability to zinc of pure lipid membranes containing cholesterol. We suggest that the antibiotic enhanced zinc absorption from the oral supplement thereby effecting resolution of the patient's zinc deficiency.
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Acrodermatitis enteropathica: recent findings concerning clinical features, pathogenesis, diagnosis and therapy.
Acrodermatitis enteropathica (AE) was diagnosed in 2 siblings, boy and girl, at the age of 10 and 6 weeks. The family history is unremarkable except for consanguinity 5 generations previously. The clinical symptoms of the 2 patients conformed to the known features of AE, the gastrointestinal involvement loosing its significance with increasing age. In one patient in a stage of exacerbation the serum level of oleic acid (18:1) was lowered and of linoleic (18:2) acid slightly increased while that of arachidonic acid was decreased (Fig. 4). In both patients the serum zinc levels were significantly lowered. Under substitution with ZnSO4 the clinical condition improved and the serum zinc levels returned to normal. Histologically the small bowel mucosa was practically normal. Ultrastructural examination of jejunal biopsies revealed rather unspecific changes in the enterocytes in the form of numerous multivesicular bodies. The Paneth cells sometimes contained irregularly formed inhomogeneous structures within their cytoplasm. In addition the secretory granules varied in size and displayed a granular heteromorphic matrix. Frequently they were confluent and formed giant granules.
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Acrodermatitis enteropathica. II. Zinc deficiency and ultrastructural findings.
The basic defect in acrodermatitis enteropathica (A.E.) is zinc deficiency caused by zinc malabsorption. The clinical symptoms disappear and serum zinc levels normalize after oral treatment with zinc. A report is given on two siblings suffering from A.E., both treated with oxyquinolines for a long period with changing clinical success. A permanent clinical remission could be achieved by treatment with zinc-sulphate at doses of 110-220 mg daily. The serum zinc levels normalized. The correlation between the zinc concentration of the hair and the kind of therapy was not very close. As we have shown in our first communication, the Paneth cells of the intestinal mucosa display ultrastructural changes in form of an unhomogeneous structure of the cytoplasm, formation of giant granules, and inclusion bodies. The zinc-therapy led to a complete normalization of the pathological changes in the Paneth cells. Thus, the changes in the Paneth cells in A.E. are the result and not the cause of zinc deficiency.
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Serum and hair zinc as predictors of clinical symptoms in acrodermatitis enteropathica.
Hair- and serum-zinc concentrations were measured in six patients with acrodermatitis enteropathica before and sequentially after cessation of zinc supplementation; supplementation was restarted when symptoms appeared. Serum zinc correlated accurately with zinc dosage and was lowest when symptoms of deficiency appeared. Hair zinc was initially age- and body size-related and was minimally influenced by the supplementation break. Adult patients had continuously normal concentrations. In paediatric patients hair zinc was low. Their serum concentrations should probably be maintained slightly above or at the upper limit of reference values for prolonged periods for normalization of hair and perhaps tissue zinc contents.
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Acrodermatitis enteropathica.
A brief review of the clinical and biochemical features of Acrodermatitis enteropathica is given. This condition in now known to be caused by a systemic zinc deficiency secondary to a defect in the intestinal absorption of zinc and it illustrates the metabolic importance of this element in man.
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Acrodermatitis enteropathica in a full-term breast-fed infant.
Acrodermatitis enteropathica which is a manifestation of zinc deficiency, is rarely seen in breast-fed infants. A child with typical acral rash, zinc deficiency and low breast milk zinc levels is described. The importance of awareness of this entity in breast-fed infants along with differential diagnosis is being emphasized.
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Differences in the cellular zinc content and 5'-nucleotidase activity of normal and acrodermatitis enteropathica (AE) fibroblasts.
The acrodermatitis enteropathica (AE) mutation affects zinc (Zn) metabolism in human fibroblasts. We hypothesize that the mutation affects the cell Zn content, which subsequently affects the activity of various zinc-dependent enzymes, such as 5'-nucleotidase. Therefore, normal and AE fibroblasts were grown in normal medium containing physiological levels of Zn (16 micromol/L) for approximately 24 h. The medium was replaced by normal medium (16 micromol/L Zn), Zn-depleted medium (1.5 micromol/L Zn), or Zn-supplemented medium (200 micromol/L Zn) for another 24 h. Regardless of the Zn concentration of the growth medium, the AE fibroblasts contained significantly less Zn than normal fibroblasts grown in comparable medium. Nevertheless, growth of the fibroblasts in 200 micromol/L Zn medium significantly increased the cell Zn content fourfold of both normal and AE fibroblasts. The activity of 5'-nucleotidase in the AE fibroblasts grown in 16 micromol/L Zn or 1.5 micromol/L Zn medium was also significantly lower than in normal fibroblasts. Changing the growth medium from 16 micromol/L Zn to 1.5 micromol/L Zn medium did not affect the activity of the enzyme in either genotype. Cells grown in 200 micromol/L Zn medium exhibited threefold greater 5'-nucleotidase activity in AE fibroblasts, but had no affect on enzyme activity in normal cells. In summary, altering the cell Zn content of normal fibroblasts did not result in a significant change in their 5'-nucleotidase activity. However, AE fibroblasts grown in 200 micromol/L Zn medium exhibited recovery of their 5'-nucleotidase activity to normal levels. These results support the hypothesis that the AE mutation affects the cellular Zn content. The lower cell Zn content subsequently affects the activity of 5'-nucleotidase.
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The effect of the acrodermatitis enteropathica mutation on zinc uptake in human fibroblasts.
The acrodermatitis enteropathica (AE) mutation affects intestinal zinc absorption. Our goal was to determine whether the AE mutation affects zinc uptake in human fibroblasts. Zinc uptake was determined during initial rates of uptake (10 min) following incubation in HEPES/saline buffer. Zinc uptake (from 0.25 to 1 microM) into normal fibroblasts was significantly greater than into the AE fibroblasts (p < 0.05). In order to identify factors that may alter cellular zinc uptake and be affected by the AE mutation, zinc uptake in the presence of albumin or bicarbonate was measured. Albumin restricted zinc uptake in both normal and AE fibroblasts, whereas bicarbonate stimulated zinc uptake in the normal fibroblasts. The effect of bicarbonate on zinc uptake in the AE fibroblasts was significantly reduced in both the Pronase-sensitive and Pronase-resistant compartments. Following loading of the fibroblasts with 1 microM zinc for 60 min, zinc efflux and retention were measured. The AE mutation did not affect zinc retention compared to normal fibroblasts. We conclude that the AE mutation affects both zinc binding to the cell surface and its translocation across the plasma membrane into the cell, possibly mediated through a defective anionic exchange mechanism.
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[Juxta-articular fibroid nodules and acrodermatitis chronica atrophicans in late stage Lyme borreliosis].
A 60-years old female patient developed juxta-articular fibroid nodules and erythrocyanotic lesions of acrodermatitis chronica atrophicans after several tick bites. The woman was treated with ceftriaxon (Rocephin) 2 g daily parenterally without adverse reactions.
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Acrodermatitis chronic atrophicans: a chronic T-cell-mediated immune reaction against Borrelia burgdorferi? Clinical, histologic, and immunohistochemical study of five cases.
BACKGROUND: Acrodermatitis chronica atrophicans (ACA) is a late manifestation of infection caused by Borrelia burgdorferi. OBJECTIVE: Our purpose was to study the clinical, histopathologic, and immunohistochemical findings in patients with ACA to understand better the pathogenesis of the disease. METHODS: Five patients were studied. Skin biopsy specimens were obtained from active lesions for histologic and immunohistochemical studies. RESULTS: Clinical lesions included an initial erythematous discoloration in one patient and violaceous infiltrated plaques and nodules in four patients, three of whom also had late atrophic lesions. Biopsy specimens showed a dermal perivascular and interstitial lymphocytic infiltrate with plasma cells. There was a predominance of CD3+, CD4+ T cells in the dermal infiltrate. B cells were present in three patients. The dermal infiltrate showed an intense expression of lymphocyte function-associated antigen. The intercellular adhesion molecule type 1 was expressed on endothelial cells, perivascular mononuclear cells, and focally on basal keratinocytes. CONCLUSION: Our findings suggest that a chronic, T-cell-mediated immune reaction against B. burgdorferi is involved in the pathogenesis of ACA.
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Interactions between zinc, essential fatty acids and prostaglandins: relevance to acrodermatitis enteropathica, total parenteral nutrition, the glucagonoma syndrome, diabetes, anorexia nervosa and sickle cell anaemia.
Many of the features of zinc deficiency and of essential fatty acid (EFA) deficiency are similar in both animals and humans. The two agents interact in various ways. EFAs are important in zinc absorption, probably after conversion to prostaglandins (PGs). Zinc seems necessary for at least two stages in EFA metabolism, the conversion of linoleic acid to gamma-linolenic acid, and the mobilisation of dihomogammalinolenic acid (DGLA) for the synthesis of 1 series PGs. Zinc may also be important in the conversion of DGLA to arachidonic acid and in arachidonic acid mobilisation for 2 series PG formation. These interactions shed considerable light on a number of clinical syndromes, including acrodermatitis enteropathica, total parenteral nutrition, diabetes mellitus, the glucagonoma syndrome and sickle cell anaemia. There is substantial evidence to suggest that anorexia nervosa is due to a combined deficiency of zinc and EFAs. Understanding of the roles of zinc and EFAs in these various clinical situations is likely to lead to improved therapy.
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Acrodermatitis enteropathica and the relation to pellagra.
A patient with a variant form of acrodermatitis enteropathica (AE) without hypozincemia is presented who showed a rise in plasma zinc and partial improvement on a pancreatic enzyme preparation, apparently because of its content of picolinic acid (PA). Complete recovery occurred on 60 mg zinc (1). This patient has now been treated with zinc PA (equal to only 5 mg zinc) and subsequently with PA. Both maintained elevated plasma zinc levels. Because of the similarity of AE with pellagra and the common origin of PA and nicotinic acid from tryptophan, a hypothesis is presented which suggests that skin manifestations in the two disorders are due to PA deficiency since picolinic carboxylase forms NAD preferentially when there is competition for the common precursor.
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Acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis.
We describe a female infant with an acrodermatitis enteropathica-like eruption as the presenting sign of rapidly fatal cystic fibrosis. The patient had growth retardation, developed an erythematous eruption unresponsive to oral zinc, and finally a generalized erosive dermatitis with associated edema, anemia and hypoproteinemia.
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Acrodermatitis enteropathica and an overview of zinc metabolism.
Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests. Here we provide an overview of zinc metabolism and a description of inherited and acquired zinc deficiency.
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