Analysis of similarities and differences between transient symptomatic zinc deficiency and acrodermatitis enteropathica in children: a case report of a Chinese Yi-ethnic infant

作者全名：Gu, Li; He, Xue-Hui; Zhu, Peng

作者地址：[Gu, Li; He, Xue-Hui; Zhu, Peng] Chongqing Med Univ, Yibin Hosp, Childrens Hosp, Dept Pediat, 108 Shangmao Rd, Yibin, Sichuan, Peoples R China; [Gu, Li; He, Xue-Hui; Zhu, Peng] First Peoples Hosp Yibin, Dept Pediat, Yibin, Sichuan, Peoples R China

通信作者：Gu, L (通讯作者)，Chongqing Med Univ, Yibin Hosp, Childrens Hosp, Dept Pediat, 108 Shangmao Rd, Yibin, Sichuan, Peoples R China.; Gu, L (通讯作者)，First Peoples Hosp Yibin, Dept Pediat, Yibin, Sichuan, Peoples R China.

来源：BMC PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001227189000002

JCR分区：Q2

影响因子：2

年份：2024

卷号：24

期号：1

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结束页：　

文献类型：Article

关键词：Zinc deficiency; Aquired; Acrodermatitis enteropathica; Case report

摘要：Background Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with low birthweight infants. Its clinical manefestations are similar to Acrodermatitis enteropathica (AE), which is a genetic zinc absorption disorder caused by SLC39A4 gene mutations. This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. TSZD is often misdiagnosed as AE because of their extremely similar manefestations, characterized by a typical rash. Therefore, the differention between them is still a clinical challenging.Case presentation Here, we present a case of TSZD in a 4 month and 23 days female Chinese Yi-ethnic premature with AE-like skin lesions, mainly presenting periorificial, perianal and perineal crusted, eroded, erythemato-squamous eruption. Laboratory examination showed the patient's blood zinc level was significantly decreased. Further sequencing of the SLC39A4 gene showed no mutation in the infant and her parents. Skin lesions significantly improved after 6 days of initial zinc supplementation (3 mg/kg/d), and maintenance treatment with 1 mg/kg/day of zinc was discontinued after 8 months without recurrence.Conclusions The clinical manifestations of TSZD and AE are extremely similar, leading to a high rate of clinical misdiagnosis. While genetic analysis of the SLC39A4 gene is a reliable method for differentiating TSZD from AE. It is recommended that SLC39A4 gene test should be performed as far as possible in children with AE-like rash.

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