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Acrodermatitis enteropathica

23 February 2015, by KHARFI M. & KÜRY S.

Acrodermatitis enteropathica (AEZ; MIM 201100) is a rare hereditary illness of autosomal recessive transmission that is linked to a zinc absorption abnormality in the intestinal mucosa.

In 2002, the gene SLC39A4 (solute carrier family 39 member 4) for the zinc transporter protein ZIP4 was identified as causing this condition. It is located at chromosome 8q24 [1-3].

Acrodermatitis enteropathica (AE) normally presents when infants are weaned from breastmilk. It is characterised by a stereotypical and highly suggestive clinical picture, combining predominantly periorificial and acral skin lesions, chronic diarrhoea and psychiatric symptoms. This diagnosis is easily confirmed by demonstrating low serum levels of zinc [4-6].

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