1. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- Author
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Wenjing Hua, Jialin Zou, Yuan Zhuang, and Taiguang Zhou
- Subjects
acrodermatitis enteropathica ,SLC39A4 gene ,mutation ,zinc deficiency ,child ,Pediatrics ,RJ1-570 - Abstract
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 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: 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.
- Published
- 2022
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