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 integrated dryer 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 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 Papaya the patient had compound heterozygous for two SLC39A4 mutations: 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.