799 results match your criteria Acrodermatitis Enteropathica


Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes.

Case Rep Dermatol Med 2021 25;2021:5572583. Epub 2021 May 25.

University of Zambia School of Medicine, Lusaka, Zambia.

Acrodermatitis enteropathica (AE) is a rare disorder arising from inherited or acquired zinc deficiency. It is mainly characterized by acral dermatitis, periorificial dermatitis, alopecia, and gastrointestinal symptoms in the form of diarrhea. There are many complications of AE including local and systemic infections that may develop as a result of untreated AE. Read More

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Acute onset of blisters in an infant with acrodermatitis enteropathica: A case report.

SAGE Open Med Case Rep 2021 8;9:2050313X20984119. Epub 2021 Apr 8.

Department of Dermatology, Dalhousie University, Halifax, NS, Canada.

We represent a pediatric case of the congenital disorder caused by zinc malabsorption, acrodermatitis enteropathica, presenting with acute onsetof blisters. Although blisters can be seen in this condition, it is not always a key feature and can therefore be overlooked when considering a differential diagnosis of acute blistering in infancy. We therefore review the common and less common features of this cutaneous eruption as well as provide an extensive differential diagnosis for acute blistering in infancy. Read More

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Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.

J Biol Chem 2021 Jan 8;296:100269. Epub 2021 Jan 8.

Department of Chemistry, Michigan State University, East Lansing, Michigan, USA; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, Michigan, USA. Electronic address:

ZIP4 is a representative member of the Zrt-/Irt-like protein (ZIP) transporter family and responsible for zinc uptake from diet. Loss-of-function mutations of human ZIP4 (hZIP4) drastically reduce zinc absorption, causing a life-threatening autosomal recessive disorder, acrodermatitis enteropathica (AE). These mutations occur not only in the conserved transmembrane zinc transport machinery, but also in the extracellular domain (ECD) of hZIP4, which is only present in a fraction of mammalian ZIPs. Read More

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January 2021

Acquired acrodermatitis enteropathica from a ketogenic diet.

JAAD Case Rep 2021 Mar 28;9:75-77. Epub 2021 Jan 28.

University of Hawaii John A. Burns School of Medicine, Honolulu, Hawaii.

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Acrodermatitis enteropathica in a 3-month-old boy.

CMAJ 2021 Feb;193(7):E243

University of Calgary (Leung); Alberta Children's Hospital (Leung), Calgary, Alta.; Pediatric Institute (Leong), Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia; Department of Dermatology and Skin Sciences (Lam), University of British Columbia; BC Children's Hospital (Lam), Vancouver, BC.

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February 2021

Dermatological Manifestations in Inflammatory Bowel Diseases.

J Clin Med 2021 Jan 19;10(2). Epub 2021 Jan 19.

Gastroenterology Unit, Department of Biomedical and Clinical Sciences, "L.Sacco" Hospital, 20157 Milano, Italy.

Inflammatory bowel diseases (IBDs) may be associated with extra-intestinal manifestations. Among these, mucocutaneous manifestations are relatively frequent, often difficult to diagnose and treat, and may complicate the course of the underlying disease. In the present review, a summary of the most relevant literature on the dermatologic manifestations occurring in patients with inflammatory bowel diseases has been reviewed. Read More

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January 2021

Acrodermatitis Enteropathica: A Case Report.

Oman Med J 2020 Nov 23;35(6):e201. Epub 2020 Nov 23.

Ministry of Health, Muscat, Oman.

Acrodermatitis enteropathica is a rare autosomal recessive disease caused by a genetic mutation leading to zinc deficiency. Clinical manifestation includes skin lesions, diarrhea, and alopecia. We report the case of a two-month-old girl, admitted with erythematous scaly lesions in the neck and vesiculopustular lesions in the perioral region, associated with alopecia and diarrhea. Read More

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November 2020

Acquired Acrodermatitis Enteropathica.

Am J Med 2021 01 13;134(1):e2-e3. Epub 2020 Oct 13.

Department of Internal Medicine, Saint Vincent Hospital, Worcester, Mass.

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January 2021

Transient Symptomatic Zinc Deficiency Resembling Acrodermatitis Enteropathica in a Full-Term Breastfed Infant.

Indian J Pediatr 2021 03 6;88(3):292-293. Epub 2020 Oct 6.

Department of Dermatovenereology, West China Hospital, Sichuan University, Chengdu, China.

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Dermatological Manifestations in Pediatric Inflammatory Bowel Disease.

Medicina (Kaunas) 2020 Aug 23;56(9). Epub 2020 Aug 23.

Department of Dermatology, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.

Background and Objectives Over the last years, inflammatory bowel disease (IBD) has been reported on a high incidence in pediatric populations and has been associated with numerous extraintestinal manifestations, making its management a real challenge for the pediatric gastroenterologist. Dermatological manifestations in IBD are either specific, related to the disease activity or treatment-associated, or non-specific. This literature review aims to identify and report the dermatological manifestations of IBD in children, the correlation between their appearance and the demographical characteristics, the relationship between these lesions and disease activity, and to highlight the impact of dermatological manifestations on an IBD treatment regime. Read More

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Transient Symptomatic Zinc Deficiency in a Breastfed Infant Associated with Low Zinc Levels in Maternal Serum and Breast Milk Improving after Zinc Supplementation: An Uncommon Phenotype?

Indian Dermatol Online J 2020 Jul-Aug;11(4):623-626. Epub 2020 Jan 24.

Department of Dermatology, Venereology and Leprosy, Dr. R. P. Govt. Medical College, Kangra, (Tanda), Himachal Pradesh, India.

Acrodermatitis enteropathica (AE) is a rare, autosomal-recessive disorder of neonatal zinc deficiency due to (intestinal zinc transporter, Zip4) gene mutation with onset after weaning while breastfeeding during this period will be protective. Transient symptomatic zinc deficiency is also acquired rarely in breastfed infants with increased zinc requirements and/or inadequate concentration of zinc in breast milk. The nursing mothers of transient symptomatic zinc deficiency infants show (mammary epithelial zinc transporter, ZnT-2) gene mutation and abnormally low zinc levels in the breast milk despite normal serum zinc levels, which do not improve after zinc supplementation. Read More

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January 2020

Acrodermatitis enteropathica: a hereditary form of zinc deficiency.

QJM 2020 May 22. Epub 2020 May 22.

Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, 2-13-22, Miyakojima-Hondori, Miyakojima, Osaka, Japan.

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Alopecia universalis-like hair loss in acrodermatitis enteropathica.

Clin Exp Dermatol 2020 Oct 19;45(7):929-931. Epub 2020 May 19.

Department of Dermatology, Leicester Royal Infirmary, Leicester, UK.

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October 2020

Necrolytic Acral Erythema: Current Insights.

Clin Cosmet Investig Dermatol 2020 5;13:275-281. Epub 2020 Apr 5.

Department of Dermatology, Venereology and Leprosy, SN Medical College, Bagalkote 587102, Karnataka, India.

Necrolytic acral erythema (NAE) is now considered as a distinct clinical entity. It clinically presents as well demarcated hyperpigmented papules and plaques with thick adherent scales distributed symmetrically over dorsum of feet. It usually develops in patients with Hepatitis C virus (HCV) infection. Read More

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A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.

Exp Dermatol 2020 06 23;29(6):556-561. Epub 2020 Apr 23.

Department of Dermatovenereology, West China Hospital, Sichuan University, Chengdu, China.

The SLC30A2 gene encodes zinc transporter ZnT2, which is indispensable for the transport of zinc into the breast milk in the mammary gland. Transient neonatal zinc deficiency (TNZD) is caused by a mutation in the maternal SLC30A2 gene and has a clinical presentation similar to that of acrodermatitis enteropathica (AE). We described the case of a Chinese infant who presented with AE-like lesions 10 days after birth. Read More

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Acrodermatitis Enteropathica.

J Pediatr 2020 05 21;220:258-259. Epub 2020 Feb 21.

Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature.

BMC Pediatr 2020 01 27;20(1):34. Epub 2020 Jan 27.

Dermatology Hospital of Southern Medical University, Guangzhou, China.

Background: Acrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial dermatitis, alopecia and diarrhoea due to insufficient zinc absorption. Only one of the three known sets of twins with AE has genetic information. This case reports the discovery of new mutation sites in rare twin patients and draws some interesting conclusions by analysing the relationship between genetic information and clinical manifestations. Read More

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January 2020

Elucidating the H Coupled Zn Transport Mechanism of ZIP4; Implications in Acrodermatitis Enteropathica.

Int J Mol Sci 2020 Jan 22;21(3). Epub 2020 Jan 22.

Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel.

Cellular Zn homeostasis is tightly regulated and primarily mediated by designated Zn transport proteins, namely zinc transporters (ZnTs; SLC30) that shuttle Zn efflux, and ZRT-IRT-like proteins (ZIPs; SLC39) that mediate Zn influx. While the functional determinants of ZnT-mediated Zn efflux are elucidated, those of ZIP transporters are lesser understood. Previous work has suggested three distinct molecular mechanisms: (I) HCO3 or (II) H coupled Zn transport, or (III) a pH regulated electrodiffusional mode of transport. Read More

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January 2020

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Hum Mutat 2020 05 25;41(5):906-912. Epub 2020 Jan 25.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.

Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The pathogenicity of the variants was studied at gene expression as well as ultrastructural and tissue levels. Read More

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Acrodermatitis Enteropathica Associated With Inflammatory Bowel Disease.

ACG Case Rep J 2019 Sep 29;6(9):e00209. Epub 2019 Aug 29.

Division of Gastroenterology, Hackensack University (Palisades) Medical Center, North Bergen, NJ.

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September 2019

[Cutaneous manifestations of nutritional deficiencies].

Rev Med Suisse 2019 Nov;15(672):2125-2130

Service de médecine interne, Département de médecine, CHUV, 1011 Lausanne.

In elderly or chronically ill patients, nutritional deficiencies are common and the presence of related skin lesions is not unusual. Recognition of such cutaneous involvement is important regarding the diagnosis essentially based on clinical elements. By using some clinical case reports, we will describe several pathologies related to nutritional deficiencies like scurvy, pellagra and acquired acrodermatitis enteropathica. Read More

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November 2019

Association between micronutrient deficiency dermatoses and clinical outcomes in hospitalized patients.

J Am Acad Dermatol 2020 05 31;82(5):1226-1228. Epub 2019 Oct 31.

Department of Internal Medicine, Division of Dermatology, The Ohio State University Wexner Medical Center, Columbus.

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Concurrence of Acrodermatitis Enteropathica and Eczema Herpeticum in a Child with Atopic Dermatitis.

Case Rep Dermatol 2019 Sep-Dec;11(3):240-248. Epub 2019 Sep 10.

Department of Dermatology and Venereology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.

Acrodermatitis enteropathica (AcE) is a rare, autosomal recessive inherited disorder caused by mutation of the gene coding for zinc transport protein (ZIP 4). The disease appears during childhood especially in breastfeeding or post-breastfeeding infant. Eczema herpeticum refers to a disseminated skin infection of herpes simplex virus that usually leads to vesicular eruptions commonly seen on a background of atopic dermatitis (AD). Read More

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September 2019

Acquired Acrodermatitis Enteropathica.

JAMA Dermatol 2019 Nov;155(11):1305

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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November 2019

Combined zinc and vitamin B6 deficiency in a patient with diffuse red rash and angular cheilitis 6 years after Roux-en-Y gastric bypass.

BMJ Case Rep 2019 Aug 2;12(8). Epub 2019 Aug 2.

Department of Internal Medicine, School of Medicine, University of Florida, Gainesville, Florida, USA.

A 39-year-old woman with a history of Roux-en-Y gastric bypass (RYGB) surgery and alcohol use presented with a confluent erythematous rash involving the perineum spreading outward to the abdomen, thighs and lower back. She had angular cheilitis and glossitis. The rash was painful and blistering in scattered areas. Read More

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Image Gallery: Acrodermatitis enteropathica: recurrent flares in adulthood.

Br J Dermatol 2019 11 1;181(5):e114. Epub 2019 Aug 1.

Beaumont Hospital, Department of Dermatology, Beaumont Road, Dublin, 9, Ireland.

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November 2019

Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.

Clin Exp Dermatol 2020 Mar 21;45(2):266-267. Epub 2019 Aug 21.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.

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Overlapping dermatologic diagnoses in severe Crohn's disease with duel genetic mutations.

Int J Dermatol 2019 Nov 17;58(11):e214-e216. Epub 2019 Jun 17.

Department of Dermatology, University of Florida College of Medicine, Gainesville, FL, USA.

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November 2019