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    723 results match your criteria Acrodermatitis Enteropathica

    1 OF 15

    An acrodermatitis enteropathica-associated Zn transporter, ZIP4, regulates human epidermal homeostasis.
    J Invest Dermatol 2016 Dec 7. Epub 2016 Dec 7.
    Basic Research & Innovation Division, R&D Unit, AmorePacific Corporation, Yongin, Republic of Korea. Electronic address:
    Acrodermatitis enteropathica (AE) is an autosomal recessive disorder that is characterized by scaly eczematous dermatosis accompanied by alopecia and diarrhea. Various mutations in the SLC39A4 gene (ZIP4), which encodes a zinc transporter, are responsible for this disorder. However, the molecular mechanism underlying the involvement of ZIP4 in the pathogenesis of this condition has yet to be established. Read More

    Secondary acrodermatitis enteropathica-like lesions in a child with newly diagnosed coeliac disease.
    Paediatr Int Child Health 2016 Feb 26;36(1):72-5. Epub 2014 Dec 26.
    Department of Paediatrics, SCB Medical College , Cuttack.
    Zinc deficiency in patients with coeliac disease (CD) may result either from cumulative loss of insoluble zinc complexes or impaired zinc absorption because of damaged intestinal epithelial cell membrane. Zinc deficiency in CD is mild to moderate, though severe deficiency can occur in refractory or chronic CD cases with poor response to gluten-free diet (GFD). A boy aged 19 months presented with persistent diarrhoea, was diagnosed with CD, and developed severe zinc deficiency with acrodermatitis enteropathica-like disease while on GFD and zinc supplementation. Read More

    Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica.
    Indian Pediatr 2016 Aug;53(8):738-40
    Departments of Neonatology, *Pediatrics and #Clinical Genetics Unit,Christian Medical College, Vellore, Tamilnadu, India. Correspondence to: Dr Benjamin Ross, Department of Neonatology, Christian Medical College, Vellore 632 004, Tamilnadu, India.
    Background: Special diet with restricted branched-chain-amino-acids used for treating maple syrup urine disease can lead to specific amino acid deficiencies.

    Case Characteristics: We report a neonate who developed skin lesions due to isoleucine deficiency while using specialised formula.

    Intervention/outcome: Feeds were supplemented with expressed breast milk. Read More

    [Improvement in zinc nutrition due to zinc transporter-targeting strategy].
    Nihon Rinsho 2016 Jul;74(7):1234-8
    Adequate intake of zinc from the daily diet is indispensable to maintain health. However, the dietary zinc content often fails to fulfill the recommended daily intake, leading to zinc deficiency and also increases the risk of developing chronic diseases, particularly in elderly individuals. Therefore, increased attention is required to overcome zinc deficiency and it is important to improve zinc nutrition in daily life. Read More

    [The functional role of zinc in skin diseases].
    Nihon Rinsho 2016 Jul;74(7):1144-9
    Abstract Acrodermatitis enteropathica(AE) is caused by inherited or acquired zinc deficiency. Cutaneous clinical manifestations observed in AE include characteristic dermatitis on acral, periorificial and anogenital areas through an unknown mechanism. Recently, we found that mice fed a zinc-deficient diet develop a severe irritant contact dermatitis that has the histological features of the skin inflammation seen in AE patients. Read More

    Acrodermatitis dysmetabolica in an infant with maple syrup urine disease.
    Clin Exp Dermatol 2016 Aug 23;41(6):651-4. Epub 2016 Jun 23.
    Department of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
    Acrodermatitis dysmetabolica (AD) is a rare, newly termed, and poorly understood disease that appears to be clinically similar to acrodermatitis enteropathica (AE). Both diseases are characterized by the triad of periorificial and acral dermatitis, diarrhoea, and alopecia. Unlike AE, which is caused by zinc deficiency, AD is caused by numerous metabolic disorders. Read More

    Zinc and skin biology.
    Arch Biochem Biophys 2016 Dec 7;611:113-119. Epub 2016 Jun 7.
    Department of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, 409-3898, Japan.
    Of all tissues, the skin has the third highest abundance of zinc in the body. In the skin, the zinc concentration is higher in the epidermis than in the dermis, owing to a zinc requirement for the active proliferation and differentiation of epidermal keratinocytes. Here we review the dynamics and functions of zinc in the skin as well as skin disorders associated with zinc deficiency, zinc finger domain-containing proteins, and zinc transporters. Read More

    Acrodermatitis Enteropathica: A Case Report.
    Medicine (Baltimore) 2016 May;95(20):e3553
    From the Pediatrics Department (NN, O-EF, VVL, AI, VS), "Gr. T. Popa" University of Medicine and Pharmacy; and "St Mary" Children Emergency Hospital (LC), Iasi, Romania.
    Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very few erythematous lesions on the face. Read More

    The Functions of Metallothionein and ZIP and ZnT Transporters: An Overview and Perspective.
    Int J Mol Sci 2016 Mar 4;17(3):336. Epub 2016 Mar 4.
    Division of Integrated Life Science, Graduate School of Biostudies, Kyoto University, Kyoto 606-8502, Japan.
    Around 3000 proteins are thought to bind zinc in vivo, which corresponds to ~10% of the human proteome. Zinc plays a pivotal role as a structural, catalytic, and signaling component that functions in numerous physiological processes. It is more widely used as a structural element in proteins than any other transition metal ion, is a catalytic component of many enzymes, and acts as a cellular signaling mediator. Read More

    Acrodermatitis Dysmetabolica in a Child with Cystic Fibrosis.
    Pediatr Dermatol 2016 Mar-Apr;33(2):e93-4. Epub 2016 Feb 9.
    Princess Margaret Hospital, Perth, Western Australia, Australia.
    Acrodermatitis dysmetabolica is an umbrella term encompassing the other metabolic causes of an erosive periorificial and acral dermatitis that mimics acrodermatitis enteropathica. Causes include acquired zinc, amino acid, biotin, and fatty acid deficiencies. We present the case of an exclusively breastfed, 2-month-old boy with known cystic fibrosis admitted with failure to thrive and erosive dermatitis. Read More

    Overview of Inherited Zinc Deficiency in Infants and Children.
    J Nutr Sci Vitaminol (Tokyo) 2015 ;61 Suppl:S44-6
    Division of Integrated Life Science, Graduate School of Biostudies, Kyoto University.
    Zinc nutrition is of special practical importance in infants and children. Poor zinc absorption causes zinc deficiency, which leads to a broad range of consequences such as alopecia, diarrhea, skin lesions, taste disorders, loss of appetite, impaired immune function and neuropsychiatric changes and growth retardation, thus potentially threatening life in infants and children. In addition to dietary zinc deficiency, inherited zinc deficiency, which rarely occurs, is found during the infant stage and early childhood. Read More

    A role for dZIP89B in Drosophila dietary zinc uptake reveals additional complexity in the zinc absorption process.
    Int J Biochem Cell Biol 2015 Dec 13;69:11-9. Epub 2015 Oct 13.
    School of Biological Sciences, Monash University, Victoria, Australia. Electronic address:
    Dietary zinc is the principal source of zinc in eukaryotes, with its uptake and distribution controlled by a complex network of numerous membrane-spanning transport proteins. Dietary absorption is achieved by members of the SLC39A (ZIP) gene family, which encode proteins that are generally responsible for the movement of zinc into the cytosol. ZIP4 is thought to be the primary mammalian zinc uptake gene in the small intestine, with mutations in this gene causing the zinc deficiency disease Acrodermatitis enteropathica. Read More

    Phrynoderma and acquired acrodermatitis enteropathica in breastfeeding women after bariatric surgery.
    J Dtsch Dermatol Ges 2015 Nov;13(11):1147-54
    Department of Dermatology and Venereology, The Rudolfstiftung Hospital, Teaching Hospital of Vienna Medical University, Vienna, Austria.
    Background And Objectives: Women who have undergone bariatric surgery are susceptible to nutritional deficiencies in subsequent pregnancies. We highlight the importance of dermatologists in the early recognition of cutaneous signs of malnutrition occurring in this specific clinical setting.

    Patients And Methods: We compare clinical characteristics of two young women with dermatological signs of combined post-gestational nutritional deficiencies following Roux-en-Y gastric bypass surgery. Read More

    Soybean extracts increase cell surface ZIP4 abundance and cellular zinc levels: a potential novel strategy to enhance zinc absorption by ZIP4 targeting.
    Biochem J 2015 Dec 18;472(2):183-93. Epub 2015 Sep 18.
    Division of Integrated Life Science, Graduate School of Biostudies, Kyoto University, Kyoto, Japan
    Dietary zinc deficiency puts human health at risk, so we explored strategies for enhancing zinc absorption. In the small intestine, the zinc transporter ZIP4 functions as an essential component of zinc absorption. Overexpression of ZIP4 protein increases zinc uptake and thereby cellular zinc levels, suggesting that food components with the ability to increase ZIP4 could potentially enhance zinc absorption via the intestine. Read More

    [Cutaneous manifestations of cystic fibrosis in an infant: acrodermatitis enteropathica and gray hair].
    Rev Chil Pediatr 2015 Jan-Feb;86(1):52-5
    Unidad de Dermatología Infantil, Hospital de Niños Dr. Exequiel González Cortés, Santiago, Chile.
    Introduction: Cutaneous manifestations at the time of CF diagnosis are rare.

    Objective: To describe the case of an infant with an unusual cutaneous presentation of cystic fibrosis.

    Case Report: The case is presented of an infant with delayed physical growth at two months, and at the age of four months, presented with a skin rash and gray hair. Read More

    Acrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas).
    Clin Dermatol 2015 Jul-Aug;33(4):414-9. Epub 2015 Apr 8.
    Department of Dermatology, University of Connecticut Health Center, 21 South Road, Farmington, CT, 06030, USA. Electronic address:
    The appropriate intake and metabolism of vitamins and minerals are critical to maintaining homeostasis. Imbalance in essential nutrients, either through dietary excess or deficiency or disorders in metabolism, can result in a spectrum of dermatologic and systemic manifestations. Certain nutrient deficiencies produce a characteristic pattern of cutaneous eruption. Read More

    Vimentin filament organization and stress sensing depend on its single cysteine residue and zinc binding.
    Nat Commun 2015 Jun 2;6:7287. Epub 2015 Jun 2.
    Department of Chemical and Physical Biology, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (C.S.I.C.), Ramiro de Maeztu, 9, 28040 Madrid, Spain.
    The vimentin filament network plays a key role in cell architecture and signalling, as well as in epithelial-mesenchymal transition. Vimentin C328 is targeted by various oxidative modifications, but its role in vimentin organization is not known. Here we show that C328 is essential for vimentin network reorganization in response to oxidants and electrophiles, and is required for optimal vimentin performance in network expansion, lysosomal distribution and aggresome formation. Read More

    Bullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature.
    Dermatol Online J 2015 Apr 16;21(4). Epub 2015 Apr 16.
    Department of Dermatology, University of California, Davis.
    Acrodermatitis enteropathica is a rare autosomal recessive disease characterized by pink scaly plaques and erosions in the periorificial and acral regions. A mutation in a gene responsible for zinc transport results in significant zinc deficiency in individuals lacking oral supplementation. We present a female infant with acrodermatitis enteropathica with crusting of the periorificial regions along with perineal plaques. Read More

    Olmsted syndrome: clinical, molecular and therapeutic aspects.
    Orphanet J Rare Dis 2015 Mar 17;10:33. Epub 2015 Mar 17.
    INSERM UMR 1163, Laboratory of Genetic skin diseases, Imagine Institute, 2nd floor, 24 bld du Montparnasse, 75015, Paris, France.
    Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. Read More

    Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.
    Pediatr Dermatol 2015 May-Jun;32(3):e124-5. Epub 2015 Mar 17.
    Dermatology Department, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, México.
    Acrodermatitis enteropathica (AE) is a rare disease that results from a defective gene, SLC39A4, and is characterized by dermatitis, alopecia, and diarrhea. We report a case of AE presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for SLC39A4. This case demonstrates that not all AE mutations alter zinc transporters in the same manner and highlights the phenotypic variability of AE. Read More

    Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples.
    J Trace Elem Med Biol 2015 Jan;29:47-62
    Discovering genetic causes of zinc deficiency has been a remarkable scientific journey. It started with the description of a rare skin disease, its treatment with various agents, the successful therapy with zinc, and the identification of mutations in a zinc transporter causing the disease. The journey continues with defining the molecular and cellular pathways that lead to the symptoms caused by zinc deficiency. Read More

    SLC39A4 mutation in zinc deficiency patients.
    J Med Assoc Thai 2014 Jun;97 Suppl 6:S14-9
    Objective: To analyze the clinical presentation and SLC39A4 mutations in zinc deficiency patients.

    Material And Method: The authors conducted a cross-sectional study on all cases of zinc deficiency treated at Queen Sirikit National Institute of Child Health between January 2004 and December 2012. Demographic data, clinical manifestations, laboratory results, treatment and outcome were analyzed. Read More

    Zinc therapy in dermatology: a review.
    Dermatol Res Pract 2014 10;2014:709152. Epub 2014 Jul 10.
    Department of Dermatology, Venereology & Leprosy, Dr. R. P. Govt. Medical College, Kangra (Tanda), Himachal Pradesh 176001, India.
    Zinc, both in elemental or in its salt forms, has been used as a therapeutic modality for centuries. Topical preparations like zinc oxide, calamine, or zinc pyrithione have been in use as photoprotecting, soothing agents or as active ingredient of antidandruff shampoos. Its use has expanded manifold over the years for a number of dermatological conditions including infections (leishmaniasis, warts), inflammatory dermatoses (acne vulgaris, rosacea), pigmentary disorders (melasma), and neoplasias (basal cell carcinoma). Read More

    Congenital diseases of the gastrointestinal tract.
    Georgian Med News 2014 May(230):46-53
    Prof. em. Pediatrics, Zentrum für Kinderheilkunde, Bonn University, Germany.
    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www. Read More

    Development of a plasma zinc concentration cutoff to identify individuals with severe zinc deficiency based on results from adults undergoing experimental severe dietary zinc restriction and individuals with acrodermatitis enteropathica.
    J Nutr 2014 Aug 21;144(8):1204-10. Epub 2014 May 21.
    Department of Nutrition, University of California, Davis, Davis, CA; and
    Plasma zinc concentration (PZC) is a recommended biomarker to assess zinc status and the risk of zinc deficiency in populations. However, the relation between PZC and clinical signs of zinc deficiency remains uncertain. These analyses were conducted to evaluate the relation between PZC and clinical signs of zinc deficiency and to determine a cutoff for PZC below which individuals would have an increased likelihood of having clinical signs associated with zinc deficiency. Read More

    Cow's Milk Protein Allergy Mimicking Acrodermatitis Enteropathica.
    J Clin Diagn Res 2014 Mar 15;8(3):160-1. Epub 2014 Mar 15.
    Postgraduate Student, Department of Paediatrics, Sree Balaji Medical College and Hospital, (Bharath University) , Chromepet, Chennai, India .
    Cow's milk protein allergy is an adverse immune reaction to one or more of the constituent proteins of milk obtained from any animal, most commonly alpha s 1-casein cow's milk. In many cases, the allergy is genetic in origin. The infants may experience symptoms within minutes after feeding (rapid onset) or commonly after 7-10 days of consuming the cow's milk (slower onset). Read More

    Extreme population differences in the human zinc transporter ZIP4 (SLC39A4) are explained by positive selection in Sub-Saharan Africa.
    PLoS Genet 2014 Feb 20;10(2):e1004128. Epub 2014 Feb 20.
    Institute of Evolutionary Biology (CSIC-UPF), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
    Extreme differences in allele frequency between West Africans and Eurasians were observed for a leucine-to-valine substitution (Leu372Val) in the human intestinal zinc uptake transporter, ZIP4, yet no further evidence was found for a selective sweep around the ZIP4 gene (SLC39A4). By interrogating allele frequencies in more than 100 diverse human populations and resequencing Neanderthal DNA, we confirmed the ancestral state of this locus and found a strong geographical gradient for the derived allele (Val372), with near fixation in West Africa. In extensive coalescent simulations, we show that the extreme differences in allele frequency, yet absence of a classical sweep signature, can be explained by the effect of a local recombination hotspot, together with directional selection favoring the Val372 allele in Sub-Saharan Africans. Read More

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