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acrodermatitis enteropathica

The rare inherited condition acrodermatitis enteropathica (AE) results from a defect in the absorption of dietary zinc.

Etiology

- mutations in the SLC39A4 gene (8q24) encoding a histidine-rich protein hZIP4, a member of a large family of transmembrane proteins, some of which are known to serve as zinc-uptake proteins. (#12032886#)

Differential diagnosis

- acrodermatitis enteropathica-like eruption

References

- An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S. Hum Mutat. 2009 Jun;30(6):926-33. PMID: #19370757#