Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation

Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation

Blog Article

The clinical data and gene sequencing results in a child with acrodermatitis enteropathica were retrospectively reported, and the related literature was reviewed.A girl aged 9 years and 4 months presented with a repeated skin rash, mainly distributed in the perioral, anogenital, and acral Ring Holder areas, accompanied with alopecia, and a low blood zinc level was found many times.A significant improvement was seen after continuous zinc supplementation.The genetic sequencing test demonstrated that the patient had compound heterozygous for two SLC39A4 mutations: Flight Socks c.1466dupT (p.

S490Efs*155) and c.295G > A (p.A99T), and her parents were heterozygous carriers of these two mutations.An improvement was achieved after continuous zinc supplementation.This case report might guide further research on this aspect.