Acquired Zinc Deficiency in Association with Anorexia Nervosa: Case Report and Review of the Literature

Zinc deficiency, whether a result of an acquired or inherited abnormality of zinc metabolism, is associated with characteristic cutaneous findings. The inherited variety is known as acrodermatitis enteropathica. We present a case of zinc deficiency secondary to starvation induced by anorexia nervosa. Since the cutaneous stigmata of zinc deficiency and anorexia nervosa can initially be subtle and occasionally overlap, we believe that screening zinc levels in patients with anorexia nervosa with prominent cutaneous findings should be considered.     

Acquired acrodermatitis enteropathica secondary to alcoholism

Acrodermatitis enteropathica is a zinc deficiency disorder characterized by well-demarcated, erythematous, eczematous plaques in a periorificial and acral distribution. Hereditary and acquired forms have been described. We report a case of acquired acrodermatitis enteropathica secondary to alcoholism. Treatment of the underlying disorder and zinc replacement therapy resulted in rapid resolution of the condition.     

Acrodermatitis Dysmetabolica in a Child with Cystic Fibrosis

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. A diagnosis of acrodermatitis dysmetabolica was made when investigations revealed a normal zinc level but low amino acid levels.     

Acrodermatitis enteropathica-like skin eruption in a case of short bowel syndrome following jejuno-transverse colon anastomosis

Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. Zinc is an essential trace element in human metabolism and acquired zinc deficiency may manifest with skin eruptions simulating acrodermatitis enteropathica. We report an unusual case of acrodermatitis enteropathica-like skin eruption due to deficiency of zinc and other nutritional factors in a patient who has undergone extensive small bowel resection and jejuno-transverse colon anastomosis for mesenteric ischemia.     

A Diagnostic Challenge: A Case of Acrodermatitis Enteropathica without Hypozincemia and with Maternal Milk of Low Zinc Level

Abstract: Acrodermatitis enteropathica is a rare and distinct form of zinc deficiency with a requirement of life‐long zinc supplementation and inherited in a recessive manner. Transient nutritional zinc deficiency is also a well known condition mimicking acrodermatitis enteropathica like skin changes in preterm and term infants who are generally breastfed with a low level of zinc containing milk. Here, a 4‐month‐old male, term and fully breastfed acrodermatitis enteropathica case without hypozincemia and with maternal milk of low zinc level is presented.     

Novel SLC39A4 mutations in acrodermatitis enteropathica

Acrodermatitis enteropathica is an autosomal recessive disease characterized by skin involvement due to defective intestinal zinc absorption. Usually, the skin lesions include erythema, erosions, and small blisters in perioral, perianal regions, and hands and feet, which develop soon after weaning from the breast. The acrodermatitis enteropathica gene has been localized to chromosomal region 8q24.3 and subsequently the SLC39A4 gene has been disclosed as the acrodermatitis enteropathica gene. SLC39A4 mutations have been demonstrated in several acrodermatitis enteropathica families, and in this study we have examined two Japanese acrodermatitis enteropathica families for SLC39A4 mutations. The mutation detection strategy consisted of polymerase chain reaction amplification of all 12 exons and flanking intronic sequences, followed by direct nucleotide sequencing. It revealed three novel mutations, 1017ins53, which creates a premature termination codon, and two mis-sense mutations, R95C and Q303H.     

A case of acquired Zinc deficiency

We report a case of adult-onset acquired zinc deficiency after bariatric surgery. Zinc deficiency may be inherited in the form of acrodermatitis enteropathica or acquired by low nutritional intake, malabsorption, excessive loss of zinc, or a combination of these factors.     

Kwashiorkor-like zinc deficiency syndrome in anorexia nervosa.

This report deals with a 26-year-old white woman exhibiting signs of both Kwashiorkor (marasmus, pallor, hypopigmentation of hair and hepatomegaly) and acrodermatitis enteropathica (eczematous dermatitis predominantly on acral areas). Clinical and laboratory examinations excluded malabsorption syndrome and glucagonoma syndrome and revealed hypoproteinemia and marked zinc deficiency. Psychiatric examination disclosed anorexia nervosa. Substitution therapy led to rapid clearing of the skin lesions.     

Acrodermatitis enteropathica in full-term breast-fed infant

BACKGROUND: Acrodermatitis enteropathica is a rare autosomal recessive disorder, caused by impaired absorption of zinc from the gastrointestinal tract. Symptoms of acrodermatitis enteropathica occur within the first few months after birth and tend to appear shortly after discontinuation of breast-feeding. We report a breast-fed infant with acrodermatitis enteropathica. CASE REPORT: A full term, 4-month-old girl, consulted in dermatologic department for persistent and refractory anogenital lesions since the age of 1 month, with progressive erythematous, vesiculous and squamous lesions, sometimes erosive in a peri orificial and acral pattern. She was calm and healthy baby. She was breast feeding. The diagnosis of acrodermatitis enteropathica was confirmed by decreased plasma zinc level (14 microg/100 ml). Breast milk zinc levels was low (46 microg/100 ml), as plasma zinc level of the mother (94 microg/100 ml). A genetic study showed that she was homozygous for the mutation, whereas her brother and parents were heterozygous. She was given zinc sulphate, and her condition has improved significantly. DISCUSSION: Acrodermatitis enteropathica is characterized by a characteristic clinical feature and the diagnosis is confirmed by decreased plasma zinc level. Acrodermatitis enteropathica in exclusively breast fed infant is rare, it was essentially reported in premature babies. Our case report is particular because it's concerning a full-term breast-fed infant, with zinc deficiency in breast milk and mother's decreased plasma zinc level.     

Zinc therapy in acrodermatitis enteropathica]

Report of two patients with acrodermatitis enteropathica, one of them 20 years old and with very severe symptoms of the disease. Oral therapy with zinc resulted in complete cure within two months. The theory about chelating of dietary zinc in patients with acrodermatitis enteropathica is discussed.     

Malignant melanoma and dermatofibrosarcoma in a 60-year-old patient with lifelong acrodermatitis enteropathica

The life course of acrodermatitis enteropathica is recorded in a 62-year-old white man. Initially saved in infancy by breast-feeding and good medical care, later in his twenties he responded well to diiodohydroxyquinoline (Diodoquin) therapy, his only residua being dermatitis, hoarseness, and short stature. Subsequently untreated, this patient years later developed not only a dermatofibrosarcoma but also a large amelanotic malignant melanoma. Both were successfully excised. Subsequently, oral zinc therapy initiated for the first time cleared his acrodermatitis, which had been present for 60 years. It is suggested that this patient's malignancies developed as a result of an immune deficiency state typically found in acrodermatitis enteropathica. On this basis, acrodermatitis enteropathica may be viewed as having a malignant potential over the long term. The zinc-dependent nature of the immune deficit, however, suggests that lifelong daily zinc supplementation is an appropriate prophylactic measure.     

Acquired zinc deficiency disease of skin

Two patients, who were on long term parenteral hyperalimentation, developed skin lesions similar to those seen in acrodermatitis enteropathica. Both patients were treated with oral zinc sulphate and their skin lesions cleared completely. These patients are presented as an acquired zinc deficiency syndrome.     

Acquired acrodermatitis enteropathica due to zinc‐depleted parenteral nutrition

Well‐known causes of zinc deficiency, also referred to as acrodermatitis enteropathica (AE), include defects in intestinal zinc transporters and inadequate intake, but a rare cause of acquired zinc deficiency discussed here is an iatrogenic nutritional deficiency caused by parenteral nutrition administered without trace elements. While zinc‐depleted parenteral nutrition causing dermatosis of acquired zinc deficiency was first reported in the 1990s, it is now again relevant due to a national vitamin and trace element shortage. A high index of suspicion may be necessary to diagnose zinc deficiency, particularly because early clinical findings are nonspecific. We present this case of acquired zinc deficiency in a patient admitted to a pediatric intensive care unit for respiratory distress and atypical pneumonia, who subsequently developed a severe bullous eruption due to iatrogenic zinc deficiency but was treated effectively with enteral and parenteral zinc supplementation, allowing for rapid re‐epithelialization of previously denuded skin.     

Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica

Abstract Acrodermatitis enteropathica is an inherited disorder of zinc metabolism, the molecular basis of which is currently unknown. Recent transgenic mouse studies have highlighted the potential significance of certain zinc transport proteins, for example ZnT4, in providing clues to the pathogenesis of zinc-related disorders such as acrodermatitis enteropathica. Specifically, mice of any genotype suckled on ZnT4-deficient mice fail to absorb intestinal zinc and ZnT4-deficient mice also develop dermatitis, alopecia and stunted growth. Therefore, to assess human ZnT4 as a candidate gene/protein in acrodermatitis enteropathica or related disorders, we characterized the intron-exon organization of the human ZNT4 gene, which comprises seven distinct exons spanning approximately 38.7 kb. High-resolution radiation hybrid mapping placed ZNT4 on 15q21.1. We also developed a PCR-based mutation detection strategy using primers placed on flanking introns followed by direct sequencing of the PCR products. Using this approach, we sequenced DNA from five individuals with acrodermatitis enteropathica; no mutations were identified. Thus, ZNT4 is unlikely to be the correct candidate gene for this disorder. We also identified and characterized two common single nucleotide polymorphisms in exon 5 and in the 3′ UTR of ZNT4, which will be useful for future genetic linkage studies in assessing ZNT4 as a candidate gene for other inherited disorders of zinc metabolism. Received: 27 December 2000 / Revised: 12 May 2001 / Accepted: 2 June 2001     

Hereditary zinc deficiency (Adema disease) in cattle, an animal parallel to acrodermatitis enteropathica.

Adema disease and acrodermatitis enteropathica, two parallel syndromes in calves of Friesian descent and in man, are described. Both are congenital zinc deficiency disorders with a lethal course if left untreated. Complete recovery follows oral zinc therapy. Symptoms and findings are set out in Table I. Diseased calves may serve as animal models for further studies on acrodermatitis enteropathica and the biological role of zinc.     

Metabolic diseases and pregnancy

The skin mirrors the hormonal metabolic and physiologic changes that occur during pregnancy. The metabolic effects are manifested primarily in accentuation of two disorders, porphyria cutanea tarda and acrodermatitis enteropathica. The former may be exacerbated, not only during pregnancy, but also during the post-partum period and with the intake of estrogen-containing birth control pills. Exacerbations of acrodermatitis enteropathica characteristically appear during pregnancy.     

Acrodermatitis enteropathica; zinc sulfate therapy

We present the case of two siblings with acrodermatitis enteropathica. Zinc levels were low. Oral administration of 100 mg of zinc sulfate allowed total regression of all signs. When zinc therapy was interrupted, the manifestations reappeared and disappeared again when treatment was resumed. A defect of genetic origin in digestive zinc absorption is suggested. Mohnahan's advocated zinc treatment of acrodermatitis enteropathica in 1973; it is a non-toxic treatment, which is always active and be considered as a diagnostic test.     

A case of acrodermatitis enteropathica

Acrodermatitis enteropathica is a rare hereditary disorder affecting zinc metabolism that is characterized by dermatitis, alopecia, gastrointestinal disturbances, eye infections, and growth failure. We report a 17-month-old girl with acrodermatitis enteropathica. Physical examination showed a cutaneous eruption consisting of vesiculobullous and psoriasiform skin lesions symmetrically distributed in the perioral, acral, and perineal areas. Her plasma zinc level was decreased (75 micrograms/dl), but within the normal range (60.00-135.00 micrograms/dl). The patient was given zinc sulfate 50 mg/day. At the end of two months, she had significantly improved.     

Acrodermatitis enteropathica-like eruption in an infant with nonketotic hyperglycinemia

Acrodermatitis enteropathica is a rare inherited disorder characterized by zinc deficiency and a triad of dermatitis, diarrhea, and alopecia. It is an autosomal recessive condition thought to be due to the inability to absorb zinc from the gastrointestinal tract. Acquired zinc deficiency due to a variety of etiologies may produce a similar clinical picture. These causes include inadequate supply, malabsorption, and low zinc stores. In addition to zinc, deficiencies of other nutrients such as branched chain amino acids have induced an acrodermatitis enteropathica-like eruption. We describe a case of a 26-month-old boy with a rare inborn error of metabolism known as nonketotic hyperglycinemia who developed an acrodermatitis enteropathica-like eruption. In addition to zinc deficiency, the patient was deficient in branched chain amino acids due to a low protein diet instituted to reduce his elevated glycine levels. The rash did not respond to zinc replacement alone, and therefore is most likely a combination of amino acid and zinc deficiency. Acrodermatitis enteropathica-like eruptions have been described in other conditions that cause decreased serum amino acids, such as maple syrup urine disease and organic acidurias. This is the first case describing an association between acrodermatitis enteropathica and nonketotic hyperglycinemia.     

Transient Neonatal Zinc Deficiency Due to a New Autosomal Dominant Mutation in Gene SLC30A2 (ZnT‐2)

Transient neonatal zinc deficiency (TNZD) has a clinical presentation similar to that of acrodermatitis enteropathica but is caused by a low zinc concentration in maternal breast milk. TNZD becomes clinically evident during breastfeeding and is resolved by weaning and the introduction of complementary nutrition. We present a 4‐month‐old girl with TNZD due to a new autosomal dominant mutation (663delC) in the maternal SLC30A2 gene not previously described in the literature.