Author: Vanessa Ngan, Staff Writer, 2003. Updated by Dr Amanda Oakley 2004.
Primary acrodermatitis enteropathica is a rare genetic disorder characterised by diarrhoea, an inflammatory rash around the mouth and/or anus, and hair loss. It is also called acrodermatitis enteropathy, primary zinc malabsorption syndrome, Danbolt-Closs syndrome and Brandt syndrome.
Secondary, or acquired, zinc deficiency is known as acquired acrodermatitis enteropathica.
Zinc is an essential component of the diet. Zinc in human milk is more absorbable than that from infant formulas or cow's milk, hence acrodermatitis enteropathica may be diagnosed later in breast-fed babies compared to formula-fed babies. Zinc is also found in meat, shellfish and wheat germ. Foods of plant origin are mostly low in zinc. Phytates present in cereals and soy, and high levels of calcium, can reduce the absorption of zinc through the duodenum.
Zinc is needed to assist metalloenzymes that are involved in many cellular processes throughout the body. These include the production of anti-inflammatory agents (cytokines and antioxidants) and the normal functioning of the brain.
Primary acrodermatitis enteropathica is due to malabsorption of zinc through the intestinal cells. It is associated with mutations in a gene (SLC39A4) that codes the zinc transporter protein, ZIP4. It is thought that the missing protein may be responsible for decreased zinc uptake and abnormal zinc metabolism.
To have congenital acrodermatitis enteropathica you must inherit two defective genes (one from each parent) i.e. the inheritance is autosomal recessive. If an individual receives one normal gene and one defective gene, the person will be a carrier for the disease, but usually will not show symptoms.
Acquired acrodermatitis enteropathica is due to zinc deficiency associated with one the following:
Symptoms of primary acrodermatitis enteropathica usually occur in bottle-fed infants within a few days or weeks after birth and breast-fed infants soon after weaning. Both males and females are equally affected.
Acquired acrodermatitis enteropathica can occur at any age, but is mostly diagnosed in older adults.
Skin findings in both types of acrodermatitis enteropathica are characteristic.
Other features of acrodermatitis enteropathica include:
If zinc deficiency and acrodermatitis enteropathica are clinically suspected, the following investigations may be helpful.
The inherited form of acrodermatitis enteropathica was usually fatal until the role of zinc was discovered in 1973. It is treated with 1 mg/kg body weight of oral zinc supplementation per day for life. Zinc gluconate is better tolerated than zinc sulfate. Zinc can be given during pregnancy.
After zinc replacement, the skin lesions heal within one to two weeks, diarrhoea ceases, and irritability and depression of mood improve within 24 hours.
Secondary bacterial and/or fungal infection of lesions require appropriate antibiotic therapy.
Although zinc is usually non-toxic, high doses for a long period can result in gastrointestinal symptoms, dizziness and copper deficiency, leading to anaemia.
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