Definition and clinical description

Acrodermatitis enteropathica is an inherited metabolic disorder. It leads to severe zinc deficiency due to defective absorption in the intestinal mucosa.

Symptoms and prevalence

The disease usually starts when infant is being weaned from breast milk or during the first 10 weeks of life if infant is not breastfed. It is characterized by skin conditions (eczematous pink patches that can become pustular and crusty) on the head, elbows, hands, knees, feet, around the orifices, anus and genitals. In addition to these skin features, there is diarrhoea and hair loss.

This disease is very rare, with around 0.2 cases per 100,000.

Management and treatment

The disease is incurable. Zinc supplementation leads to the suppression of symptoms.

Diagnostic method

The diagnosis is based on clinical data and laboratory tests.

Genetic counselling

Acrodermatitis enteropathica is transmitted in an autosomal recessive manner.