Acrodermatitis enteropathica

Acrodermatitis enteropathica

Description, Causes and Risk Factors:

Abbreviation: AE.

Acrodermatitis enteropathica is a rare autosomal recessive disesae leading to severe zinc deficnecy, caused by the impaired absorption of zinc in the gastrointestinal tract. The AE geen, SLC39A4, localized in the chromosomal region 8q24.3, encodes the ZIP4 zinc transporter. More recently, a group of proteins, the SLC39 proteins that are members of the broad ZIP family of metal ion transporters, were implicated in zinc uptake across the plasma membrane of various cell types. These proteins transport metal ions from the cell exterior or lumen of intracellular organelles into the cytoplasm. Their principal function is to provide zinc to new synthesized proteins, a process important for several functions, such as gene expression, immunity, reproduction, or protection against free-radical damage. The human genome encodes for 14 SLC39-related proteins. SLC39A4 is specifically implicated in the uptake of dietary zinc into intestinal enterocytes. Mutations in its gene have been identified in patients with AE.

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.

In infants with AE, absence of a binding ligand may contribute to zinc malabsorption during weaning. Such a ligand has been identified in normal pancreatic secretions, as well as in human milk. Other causes, such as high phytate concentrations found in cereals and soy milk, inhibit zinc absorption. geophagia also decreases zinc absorption.

acrodermatitis enteropathica

AE has been reported as a presentation of food allergy. Serum total immunoglobulin E (IgE) and food-specific IgE levels to milk, soybean, wheat, and peanut have been measured to evaluate for food allergy. Undiagnosed food allergy can lead to profound zinc deficiency. Food allergy should be suspected in children with acquired AE.

Transient, symptomatic zinc deficiency has been reported in breastfed, low-birthweight infants and should be considered a rare but important disorder hallmarked by periorificial and acral dermatitis, with symptoms disappearing when nursing ends. These reports illustrate the importance of zinc in rapidly growing preterm infants.

AE occurs worldwide with an estimated of 1 per 500,000 children, without a prediliection for sex or race. Although the first symptoms usually develop within days after birth in bottle-fed infants or after weaning from breast milk in older infants, it has become apparent that human milk may not always protect against the development of clinical zinc deficiency in premature and full-term infants.

Cutaneous and other manfiestation respond dramatically to 1-2 mg/kg/day of elemental zinc given orally.

Symptoms:

The clinical manfiesation are erythematous, scaly, erosive, and crusty plaques over acral and periorificial sites. They appear during the first few months of life. During this time the infant discontinues the milk and is followed by the erythematous patches. There are plaques of dry and scaly skin. The lesion appears as an eczematous and can involve further crusted vesicles, bullas and pustules. It may occur at the mouth or anus. It may also involve the hand, feet and scalp. In the nail fold one can see a suppurative inflammation which is present around the nail plate. It is known as the paronychia. The alopecia along with the loss of hair from the eyelids, scalps and eye brows is also seen. The skin lesions may also be affected with the bacteria later on which include the staphylococcus aureus or fungi like candida albicans. It is also accompanied by the diarrhea.

Diagnosis:

Diagnosis may include: Atopic dermatitis, biotin deficiency, candidiasis, epidermolysis bullosa, protein-energy malnutrition. Diagnosis is established through a constellation of clinical findings and via the detection of a low plasma zinc concentration levels.

Treatment:

There is no known cure for this disease. However, beef, liver, pumpkin seeds, pecans, and Brazil nuts are all high in zinc may be helpful. People with acrodermatitis enteropathica also need to take zinc supplements. Supplementation with zinc brings about complete remission in hereditary acrodermatitis enteropathica. Zinc supplements in the amount of 30 to 150 mg per day are used by people with this condition. People with acrodermatitis enteropathica need to be monitored by a healthcare professional to ensure that their level of zinc supplementation is adequate and that the zinc supplements are not inducing a copper deficiency.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

 

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