Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function

Gözdaşoĝlu, Sevgi; Taçyıldız, Nurdan; Günlemez, Ayla; Bayhan, Hi̇kmet; Sencer, H; Ünal, Emel; İkincioğulları, Aydan; İnceoğlu, H.; Aksoylar, Serap; Yavuz, G.; Ertem, Mehmet

doi:10.1002/1520-670x(2000)13:3<317::aid-jtra9>3.0.co;2-7

Cited by 4 publications

(2 citation statements)

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“…Acrodermatitis enteropathica has been described in breast-fed infants related to low zinc levels in the mothers. 10 , 11 In our case, the skin lesions started at the age of 2 months, about 1 month after the infant was weaned from breastfeeding.…”

Section: Discussionmentioning

confidence: 58%

Acrodermatitis Enteropathica

Nistor

Ciontu²,

Frăsinariu³

et al. 2016

Medicine

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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. Due to the numerous bacterial skin superinfections with Staphylococcus aureus, including abscesses that required surgical incision, the clinical picture was modified, leading to a delayed establishment of the diagnosis. Later, the symptoms became suggestive for this disease, the diagnostic having been confirmed by low plasma zinc values. Under zinc therapy, skin lesions improved significantly in a few days, with favorable outcome. Two months later, the skin lesions almost disappeared.Abscesses due to bacterial skin superinfections may lead to initially misdiagnosed acrodermatitis enteropathica.

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Section: Discussionmentioning

confidence: 58%

Acrodermatitis Enteropathica

Nistor

Ciontu²,

Frăsinariu³

et al. 2016

Medicine

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“…This disorder, if untreated, results in systemic zinc deficiency, and patients have been reported to suffer from skin lesions, alopecia, diarrhea, and other gastrointestinal symptoms, but also neurological symptoms, such as fatigue, moodiness, irritability, photophobia, and anorexia. In the advanced stage, growth delay, immune deficiency, photophobia, mental slowing, psychical disturbances of the schizoid type, and depression may occur [ 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ]. These symptoms might be caused by a systemic zinc deficiency, but also might also be caused by a specific function of Zip4 in the brain.…”

Section: Introductionmentioning

confidence: 99%

Expression Analysis of Zinc Transporters in Nervous Tissue Cells Reveals Neuronal and Synaptic Localization of ZIP4

Benedictis

Haffke

Hagmeyer

et al. 2021

IJMS

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In the last years, research has shown that zinc ions play an essential role in the physiology of brain function. Zinc acts as a potent neuromodulatory agent and signaling ions, regulating healthy brain development and the function of both neurons and glial cells. Therefore, the concentration of zinc within the brain and its cells is tightly controlled. Zinc transporters are key regulators of (extra-) cellular zinc levels, and deregulation of zinc homeostasis and zinc transporters has been associated with neurodegenerative and neuropsychiatric disorders. However, to date, the presence of specific family members and their subcellular localization within brain cells have not been investigated in detail. Here, we analyzed the expression of all zinc transporters (ZnTs) and Irt-like proteins (ZIPs) in the rat brain. We further used primary rat neurons and rat astrocyte cell lines to differentiate between the expression found in neurons or astrocytes or both. We identified ZIP4 expressed in astrocytes but significantly more so in neurons, a finding that has not been reported previously. In neurons, ZIP4 is localized to synapses and found in a complex with major postsynaptic scaffold proteins of excitatory synapses. Synaptic ZIP4 reacts to short-term fluctuations in local zinc levels. We conclude that ZIP4 may have a so-far undescribed functional role at excitatory postsynapses.

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The Acrodermatitis Enteropathica Gene ZIP4 Encodes a Tissue-specific, Zinc-regulated Zinc Transporter in Mice

Dufner-Beattie

Wang

Kuo

et al. 2003

Journal of Biological Chemistry

266

297

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The human ZIP4 gene (SLC39A4) is a candidate for the genetic disorder of zinc metabolism acrodermatitis enteropathica. To understand its role in zinc homeostasis, we examined the function and expression of mouse ZIP4. This gene encodes a well conserved eight-transmembrane protein that can specifically increase the influx of zinc into transfected cells. Expression of this gene is robust in tissues involved in nutrient uptake, such as the intestines and embryonic visceral yolk sac, and is dynamically regulated by zinc. Dietary zinc deficiency causes a marked increase in the accumulation of ZIP4 mRNA in these tissues, whereas injection of zinc or increasing zinc content of the diet rapidly reduces its abundance. Zinc can also regulate the accumulation of ZIP4 protein at the apical surface of enterocytes and visceral endoderm cells. These results provide compelling evidence that ZIP4 is a zinc transporter that plays an important role in zinc homeostasis, a process that is defective in acrodermatitis enteropathica in humans.A long recognized disease of zinc metabolism is the human genetic disorder acrodermatitis enteropathica (AE) 1 (1, 2). This autosomal recessive disorder causes classic symptoms of zinc deficiency (3), such as dermatological lesions, changes in the gastric mucosa associated with digestive system problems, lack of weight gain, and immune and reproductive problems (4 -8). Remarkably, these symptoms can be ameliorated by dietary zinc supplement (4, 6, 9 -11), consistent with the finding of reduced, but not eliminated, uptake of 65 Zn by the intestine from AE patients (12, 13), and the reduced uptake and total content of zinc in AE fibroblasts (14,15). Recent genetic mapping localized the AE gene to chromosome 8q24.3 (16) and led to its identification as a member of the ZIP superfamily (17, 18). That gene was named hZIP4 (the Human Genome Organization Nomenclature Committee named this gene SLC39A4).ZIP4 was found to be expressed in enterocytes and to reside in the plasma membrane. Mutations in hZIP4 were detected in AE patients (17, 18), strongly suggesting that they cause this genetic disorder.The recently identified ZIP superfamily of metal ion uptake transporters (19,20) are found in all eukaryotes, and many of its members mediate zinc uptake. In yeast, ZRT1 encodes the high affinity zinc transporter, and ZRT2 encodes the low affinity zinc transport system. The Arabidopsis iron-regulated transporter gene (IRT1) encodes a metal transporter that has remarkable sequence similarity with the yeast ZRTs and with other Arabidopsis zinc transporters (19, 21). Thus, the acronym ZIP was adopted to reflect ZRT/IRT-related proteins. Many members of the ZIP gene superfamily have now been detected based on sequence homology with yeast and Arabidopsis ZIP genes (22, 23). The ZIP proteins typically have eight membrane-spanning domains, and spanning domain four contains fully conserved histidyl and glycyl residues in an amphipathic ␣-helix. These proteins also often have a histidine-rich intracellular loop between s...

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Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function

Cited by 4 publications

References 11 publications

Acrodermatitis Enteropathica

Acrodermatitis Enteropathica

Expression Analysis of Zinc Transporters in Nervous Tissue Cells Reveals Neuronal and Synaptic Localization of ZIP4

The Acrodermatitis Enteropathica Gene ZIP4 Encodes a Tissue-specific, Zinc-regulated Zinc Transporter in Mice

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