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.     

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 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.     

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.     

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.     

Zinc deficiency: report of three cases

Acrodermatitis enteropathica has been reported as the skin disorder due to the congenital disturbance of zinc absorption in the intestine. We report on three patients with skin eruptions that resembled acrodermatitis enteropathica. Two were thought to have resulted from intravenous hyperalimentation and the other from artificial feeding.     

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.     

Acrodermatitis enteropathica with anorexia nervosa

Acrodermatitis enteropathica is a rare hereditary or acquired disorder of hypozincemia. It is characterized by acral and periorificial dermatitis, alopecia, diarrhea and growth retardation. Anorexia nervosa is characterized by low body weight, body image distortion with an obsessive fear and is also associated with various cutaneous findings including acrodermatitis enteropathica. We report a 37‐year‐old female with acrodermatitis enteropathica showing acquired zinc deficiency with anorexia nervosa.     

Cutaneous manifestations observed during prolonged intravenous feeding: 3 cases. Review of the literature (author's transl)]

3 patients (one infant and two adults) in prolonged intravenous feeding for digestive diseases developed cutaneous symptoms resembling acrodermatitis enteropathica. Essential fatty acid and hypozincemia (in 2 of 3 cases) are found. The dermatitis disappeared slowly with oral alimentation in 2 cases, and in a few days in the third one, with oral zinc sulfate. Review of literature shows that dermatitis occurring during prolonged intravenous feeding is attributed to essential fatty acid, zinc, or less often amino acid, deficiency. But resemblance of dermatitis with acrodermatitis enteropathica in most cases, high frequency of hypozincemia, and dramatic effects of treatment with zinc salts allow to think, that zinc is a key factor. Nevertheless, it is necessary to study simultaneously those different parameters and also vitamins A, E and B to conclude whether it exists or not many deficiencies (related or not) as an etiologic factor for cutaneous symptoms.     

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.     

Acrodermatitis enteropathica in total parenteral nutrition caused by Crohn disease

A 26 years old patient was suffering from Morbus Crohn and showed the signs and symptoms of an acrodermatitis enteropathica. The beginning of the parenteral nutrition preceded the signs of acrodermatitis for 30 days. The serum zinc level was normal. After therapy with zinc aspartate the dermatitis healed within one week.     

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.     

Self-Limiting Acrodermatitis Enteropathica

A variant of acrodermatitis enteropathica is described that has its onset before weaning and clears when the child starts its normal solid diet. A pedigree with three interrelated families is reported where 10 children were afflicted with this variant. They had symptoms of hypozincemia for a brief period during infancy. At the time of this study, they were symptom-free and their serum zinc levels were found to be within normal limits. The term "self-limiting acrodermatitis enteropathica" is proposed for the variant. In one lactating mother, the mammary zinc secretion was determined and was found to be deficient and unresponsive to oral zinc supplements. The possible mode of inheritance is also discussed.     

ACUTE ZINC DEPLETION SYNDROME DURING PARENTERAL HYPERALIMENTATION

ABSTRACT: Zinc is an essential trace element whose malabsorption in early childhood may result in a skin disorder known as acrodermatitis enteropathica. Cutaneous lesions typical of acrodermatitis enteropathica have been described during total parenteral nutrition on zinc-deficient intravenous solutions in both adults and children. This condition has been named the “acute zinc depletion syndrome.” A case is described in which a patient, despite a zinc intake of double the daily requirement, manifested the acute zinc depletion syndrome during therapy with combined liquid diet plus parenteral hyperalimentation. Predisposing factors in this individual included a short bowel syndrome and a large oral load of calcium lactate. Zinc metabolism is reviewed with attention to alterations in disease and during hyperalimentation. The clinical manifestations, predisposing factors, therapy and prevention of the acute zinc depletion syndrome are discussed.     

Acrodermatitis enteropathica treated by zinc

A case of acrodermatitis enteropathica has, after 14 years essential treatment with Diodoquin, been able to abandon this therapy on exhibition of zinc.     

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.     

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     

Skin lesions in acquired zinc deficiency due to parenteral nutrition.

The skin lesions seen in 10 patients who received parenteral nutrition during treatment of chronic enteropathy are described. All of these patients had a lowered serum zinc concentration. The skin lesions were similar to those seen in acrodermatitis enteropathica. After supplementation with zinc sulphate, the skin lesions disappeared completely. A decrease in the serum alkaline phosphatase level can be regarded as a sign of an impending zinc deficiency. Parenteral nutrition formulae should contain a sufficient amount of zinc.     

ACRODERMATITIS ENTEROPATHICA*

A case of acrodermatitis enteropathica is reported in which there was a clinical response to zinc therapy despite a normal pretreatment plasma zinc level. Unusual features are the absence of diarrhoea and the large doses of zinc required for control of the disorder.