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PubMed1979

Zinc therapy of depressed cellular immunity in acrodermatitis enteropathica. Its correction.

A child with hypogammaglobulinemia and intractable diarrhea underwent parenteral alimentation for five months. A clinical syndrome of acrodermatitis enteropathica subsequently developed associated with a depression in thymus-dependent lymphocyte (T cell) numbers, abnormal T-cell mitogen-induced blast transformation, and anergy to skin test antigens. Plasma zinc levels were found to be abnormally low. Zinc therapy resulted in dramatic resolution of the clinical manifestations of acrodermatitis enteropathica. Cell-mediated immune function was also restored to normal, suggesting an important role for zinc and possibly other trace metals in cellular immune responses.

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PubMed2003

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.

Acrodermatitis enteropathica is rare autosomal recessive disorder characterized by a severe nutritional zinc deficiency. We and others have recently identified the human gene encoding an intestinal zinc transporter of the ZIP family, SLC39A4, as the mutated gene in acrodermatitis enteropathica (AE). A first mutation screening in 8 AE families (15 patients out of 36 individuals) revealed the presence of six different mutations described elsewhere. Based on these results, we have evaluated the involvement of SLC39A4 in 14 patients of 12 additional AE pedigees coming either from France, Tunisia, Austria or Lithuania. A total of 7 SLC39A4 mutations were identified (1 deletion, 2 nonsense, 2 missense, and 2 modifications of splice site), of which 4 are novel: a homozygous nonsense mutation in 3 consanguineous Tunisian families [c.143T>G (p.Leu48X)], a heterozygous nonsense mutation (c.1203G>A (p.Trp401X)) in a compound heterozygote from Austria also exhibiting an already known missense mutation, and distinct homozygous mutations in families from France or Tunisia [c.475-2A>G and c.184T>C (p.Cys62Arg)]. Furthermore, two other potential mutations [c.850G>A (p.Glu284Lys) and c.193-113T>C] were also observed at homozygous state in a French family formerly described. This study brings to 21 the number of reported SLC39A4 mutations in AE families.

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PubMed1985

Fatty acid composition of plasma lipids in acrodermatitis enteropathica before and after zinc supplementation.

The fatty acid composition of different plasma lipid fractions has been estimated in a 6-month-old girl with acrodermatitis enteropathica before and after zinc supplementation. Linoleic acid and its metabolites were extremely reduced in triglycerides and sterol-esters. In contrast, n-3-fatty acids were increased in sterol-esters and phospholipids. Zinc supplementation led to quick clinical improvement, and linoleic and arachidonic acid increased rapidly in triglycerides and sterol-esters to the values of healthy infants. Fatty acids of phospholipids remained relatively stable. Our findings could be explained by impaired enteral absorption of linoleic acid. Further attention should be directed to the supply and metabolism of essential fatty acids in acrodermatitis enteropathica.

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PubMed1989

Clinical and laboratory diagnosis of acrodermatitis enteropathica.

Acrodermatitis enteropathica is an inborn error of metabolism resulting in zinc malabsorption and severe zinc deficiency. From personal experience and a literature review the following conclusions were drawn: 1. Symptoms other than dermatitis, vary with age. Diarrhoea, mood changes, anorexia, and neurological disturbance were reported most frequently in infancy. Growth retardation, alopecia, weight loss and recurrent infections were prevalent in toddlers and schoolchildren. Spontaneous remission may occur at adolescence. 2. The severity of symptoms also varies. Intermittent or mild cases of the disease and those presenting with uncommon features such as ophthalmic, cerebral or hepatic involvement, are easily overlooked. In the severe cases this may result in a fatal outcome. If untreated, the overall mortality rate is 20%, being higher in males. 3. The laboratory diagnosis is hazardous. In patients, mean zinc values in serum, urine and hair were ca. 50% of normal levels. There is a 15% overlap with healthy controls; moreover, low zinc levels in serum, urine or hair are also found in other diseases. A more specific test is required. 4. In cases of doubt, in vitro or in vivo zinc absorption tests using radioisotopes (65Zn or 69mZn) may be performed. These appear not to be influenced by other conditions and show less overlap with controls. If such tests are unavailable, the clinical response to 3-30 mumol zinc/kg per day for 5 days may be awaited. This is recommended in infants or children with one or more symptoms of acrodermatitis enteropathica.

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PubMed1989

Zinc transport by fibroblasts from patients with acrodermatitis enteropathica.

Acrodermatitis enteropathica (AE) is a zinc deficiency disease. To date, the only defect has been demonstrated in the gut. We have investigated zinc uptake in fibroblasts established from four unrelated patients with AE using normal skin fibroblasts as controls. Zinc content of AE and control cells was similar (0.3 fmol/cell). Zinc accumulation over 24 h from a complete culture medium was similar in both normal controls and mutant cells. The fraction of zinc removed by Pronase treatment remained constant at 50 pmol/micrograms DNA, whereas the zinc remaining after Pronase treatment accumulated rapidly for 8 h, then more slowly. Analysis of binding data showed no significant difference between AE and control cells, with apparent Ka values of 4-6 X 10(6) M-1 and between 1 and 2 X 10(8) receptors/cell. Analysis of Pronase resistant data showed no difference between the control and the mutant cells with apparent Km values of 0.2-0.3 microM and Vmax values of 17-19 pmol/micrograms DNA/h. No difference in zinc efflux rates was detected. We conclude that the defect that underlies acrodermatitis enteropathica is either not expressed in fibroblasts or cannot be detected under these experimental conditions.

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PubMed2002

Acrodermatitis enteropathica-like eruption as the presenting sign of cystic fibrosis--case report and review of the literature.

UNLABELLED: In most patients with cystic fibrosis (CF), pulmonary symptoms are the first sign of presentation. Another predominant feature is maldigestion, frequently starting in early childhood. Pancreatic exocrine dysfunction causes maldigestion, characterised by failure to thrive, diarrhoea, hypoproteinaemia, oedema and anaemia. Dermatitis may be the initial manifestation in just a few patients with CF. We report on a patient presenting with refractory dermatitis resembling acrodermatitis enteropathica as the first sign of CF at the age of 4 months, but without pulmonary symptoms. Laboratory findings demonstrated anaemia, hypoproteinaemia and zinc deficiency. Peroral zinc substitution resulted in resolution of the dermatitis within a few days. A further work-up revealed a positive sweat test and homozygosity for the deltaF-580 mutation. CONCLUSION: in rare cases, acrodermatitis enteropathica-like dermatitis is the first symptom of cystic fibrosis.

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PubMed1985

Copper responsive anemia, induced by oral zinc therapy in a patient with acrodermatitis enteropathica.

Normocytic anemia with granulocytopenia occurred in a 23 year old man with acrodermatitis enteropathica who received high doses of zinc sulphate orally for 12 months. Copper deficiency was suspected to be the cause of this anemia when extreme hypocupremia and hypoceruloplasminemia were found. Oral zinc therapy was stopped and intravenous supplements of copper were followed by reticulocytosis and complete correction of the anemia and granulocytopenia. Plasma copper and ceruloplasmin levels normalized. Up to now copper deficiency has never been reported during zinc treatment in acrodermatitis enteropathica. We conclude that the copper status should be monitored during oral zinc therapy in this condition.

Acetates↗
PubMed2006

A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica.

Acrodermatitis enteropathica is a rare autosomal recessive disease that manifests as an inability of the affected individual to absorb intestinal zinc, and therefore patients have nutritional zinc deficiency. Without zinc therapy, this condition is fatal. Mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. This gene encodes one member of a human zinc/iron-regulated transporter-like protein, also known as ZIP4, and consists of 12 exons and spans about 4.7 kb. We describe a novel mutation in a Tunisian family in which a chain termination codon in exon 3 yielded a truncated ZIP4 zinc transporter protein.

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PubMed1994

Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria.

Cutaneous lesions resembling acrodermatitis enteropathica were present in two infants with methylmalonic acidemia and in one infant with propionic acidemia. All three infants were being fed a low-protein diet limited in branched-chain amino acids when the skin lesions developed. A deficiency in plasma levels of essential amino acids, particularly isoleucine, was confirmed. Supplementation of the diet with isoleucine in one of the patients led to a prompt improvement of the skin lesions. We conclude that dietary deficiencies associated with the treatment of organic aciduria should be added to the causes of acrodermatitis enteropathica-like cutaneous lesions.

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PubMed1983

Acrodermatitis enteropathica.

A case of acrodermatitis enteropathica belatedly recognized in a pregnant 23-year-old woman is reported. The condition was not specifically diagnosed during childhood. It cleared at puberty but recurred during two of three pregnancies in the form of pustular, vesiculobullous, and psoriasiform lesions. There were no associated signs or symptoms in other organs. Initial diagnoses upon the recurrence during the third pregnancy were herpes gestationis and impetigo herpetiformis. A markedly decreased serum zinc level (18 micrograms/dl) was found. Treatment with zinc sulfate was instituted, and within 3 days the cutaneous lesions began to clear. Two months after the birth of a healthy child, and without further therapy, all lesions had resolved and the serum zinc level was nearly normal. Acrodermatitis enteropathica should be considered in the differential diagnosis of unresponsive bullous dermatoses occurring during pregnancy.

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PubMed2005

Acrodermatitis enteropathica-like eruption and food allergy.

BACKGROUND: Acrodermatitis enteropathica-like eruption (AE) is a distinct rash associated with profound zinc deficiency. It is seen in a variety of conditions but has not been reported as a presentation of food allergy. OBJECTIVE: To report AE as an unusual presentation of food allergy in infants. METHODS: Acrodermatitis enteropathica-like eruption was diagnosed by a characteristic rash and a low serum zinc level. The diagnosis of food allergy was made by history, serum total IgE and food specific IgE levels, or oral challenge with suspected foods. RESULTS: Two infants with AE, diarrhea, and low serum zinc levels were evaluated. Food allergy was found in both infants. The first infant had a serum IgE level of 4642 IU/mL. Specific IgE levels to milk, soybean, wheat, and peanut were 39.04, 10.14, 5.65, and 102.61 kU/L, respectively. Oral challenges to milk and peanut were positive and to soybean were negative. The second infant had a serum IgE level of 991 IU/mL; specific IgE levels to soybean and milk were 36.9 and 0.53 kU/L, respectively. Evaluation for other possible causes of diarrhea revealed homozygous delta F508 in the first infant, confirming the coexistence of cystic fibrosis; findings in the second infant were negative. CONCLUSIONS: Undiagnosed food allergy can lead to profound zinc deficiency. Food allergy should be suspected in a child with acquired AE.

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PubMed1998

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome.

We present two patients with a suspected inborn error of metabolism. A female newborn presented with dysmorphic features and convulsions. Metabolic screening suggested a defect in isoleucine degradation. Within 2 weeks after the introduction of an isoleucine-restricted diet, she developed a severe acrodermatitis enteropathica-like syndrome. The plasma level of isoleucine was low with a normal leucine/isoleucine ratio. The second patient, a female infant deficient in leucine as a result of a leucine-restricted diet, did not develop a dermatosis. Isoleucine is essential for normal growth and differentiation of keratinocytes and enterocytes. Deficiency of isoleucine, and not leucine or an imbalance in the leucine/isoleucine ratio, may result in an acrodermatitis enteropathica-like syndrome.

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PubMed2002

Acrodermatitis chronica atrophicans affecting all four limbs in an 11-year-old girl.

Borrelia burgdorferi is a major cause of morbidity in wooded area in western Europe and the eastern seaboard of the U.S.A. Diagnosis of late stage infection and associated disorders may be difficult and often requires an array of different diagnostic procedures. Here we report an 11-year-old girl with acrodermatitis chronica atrophicans affecting all four limbs and parts of the trunk. The diagnosis was made on the basis of clinical appearance, serological and histopathological findings, and the lesional detection of B. burgdorferi-specific gene segments by polymerase chain reaction. This very unusual, severe case illustrates that despite being a late manifestation of tick-borne B.burgdorferi infection, usually occurring in adults, acrodermatitis chronica atrophicans may already appear at a young age and may be characterized by extensive skin involvement.

Acrodermatitis↗
PubMedDate not supplied

Acrodermatitis enteropathica with Pseudomonas aeruginosa sepsis.

Acrodermatitis enteropathica is characterized by eczematous and scaly plaques on the face, scalp, acral, and anogenital regions. In addition to typical lesions, unusual prominent vesiculobullous lesions are also described. We report a full-term, 9-month-old boy who has acrodermatitis enteropathica and Pseudomonas sepsis. In this patient there were clinical findings of sepsis and eczematous vesiculobullous lesions on the periorificial and acral areas. Serum zinc level was extremely low. Pseudomonas aeruginosa was identified in cultures of blood and fluid which was aspirated from the bullous lesions. After oral zinc sulfate and intravenous antibiotic treatment his condition improved within 2 weeks.

Acrodermatitis↗
PubMedDate not supplied

[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4].

BACKGROUND: Acrodermatitis enteropathica (AE) is an autosomal recessively inherited disease caused by a decreased intestinal zinc resorption and characterized by severe dermatitis (preferably hands, feet, mouth, genital region), chronic diarrhoea, retardation of growth and development, alopecia and increased proneness to infections. In 2002 it was shown that mutations in the zinc transporter gene SLC39A4 is the cause of AE. CASE REPORT: Here we report 4 patients with typical clinical signs since early childhood. Under regular substitution with zinc all patients are more or less free of symptoms. The first patient revealed compound-heterozygous missense/nonsense mutations (P200L/ W401X), the three other patients were homozygous for a mutation in intron 1 (c.192 + 19G > A) of the SLC39A4 gene. CONCLUSION: The diagnosis of hereditary acrodermatitis enteropathica can now easily be confirmed by mutation analysis of the SLC39A4 gene.

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PubMed1998

[Suppurative acrodermatitis continua of Hallopeau. A differential diagnosis of paronychia].

HISTORY AND CLINICAL FINDINGS: A 39-year-old man was admitted for treatment of bilateral inflammatory-pustular skin changes in the area of the large toes and soles of the feet. Antibiotic treatment and an Emmert wedge resection had already been unsuccessfully performed at another hospital for what was diagnosed as paronychia. On admission there were inflammatory, in part erosive, red areas with yellow and partly confluent pustules on the distal phalanges of both great toes. The entire right nail-bed and left medial nail-bed were missing. In the area of the capillitium, both lower arms and the sulcus coronarius there were erythematous squamous plaques. INVESTIGATIONS: Radiography of the great toes demonstrated dystrophic demineralisation, in part with subchondral cystic changes of the spongiosa. Histological examination of the nail-bed showed hyperplasia and papillomatosis, definite hyperkeratosis with a prominent granular layer, as well as ortho- and parahyperkeratosis. Laboratory tests for inflammatory disease were unremarkable and there was no association with HLA B27. DIAGNOSIS, TREATMENT AND COURSE: Suppurative acrodermatitis continua of Hallopeau was diagnosed and immunosuppressive treatment with cyclosporin A given (initially 4.4 mg/kg. stepwise reduction to 2.5 mg/kg within 6 weeks, this dosage then continued for a further 10 weeks). Nearly complete healing was achieved, but the condition recurred in a mild form 2 weeks after the end of treatment. CONCLUSION: Suppurative acrodermatitis continua of Hallopeau should be included in the differential diagnosis of inflammatory changes of the distal phalanges.

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PubMed1984

[Serum antibodies against Ixodes ricinus Spirochaeta in acrodermatitis chronica atrophicans (Herxheimer)].

Using indirect immunofluorescence, IgG antibodies against the recently detected Ixodes-ricinus-spirochaeta, which causes erythema chronicum migrans could be demonstrated in all 21 persons with acrodermatitis chronica atrophicans. Titers were from 1 : 64 to 1 : 1024, specific IgM antibodies were demonstrable in only 5 patients in a titer of 1 : 64. Even after treatment with penicillin high IgG antibody titers of up to 1 : 1024 were found. Fourfold decreases could be found only once for each IgG and IgM antibodies.l Serology indicates that acrodermatitis chronica atrophicans as well as erythema chronicum migrans is caused by the Ixodes-ricinus-spirocheta.

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