Department of Dermatology, Hôpital Charles Nicolle, Tunis, Tunisia.
Nutrition. 2011 Oct;27(10):1087-9. doi: 10.1016/j.nut.2011.06.002.
We present a case of acrodermatitis enteropathica in a full-term, breast-fed, 7-mo-old infant born from consanguineous parents with a family history of acrodermatitis enteropathica.
The patient presented with periorificial and symmetric acral lesions, which prompted us to review the clinical features of acrodermatitis enteropathica and its pathogenesis. Laboratory investigations showed low zinc levels in the infant's and mother's sera and in the mothers' milk.
A diagnosis of acrodermatitis enteropathica was made. A mutation screening of the SLC39A4 gene in the patient and his mother showed heterozygosity for the deletion c.1223_1227delCCGGG. The diagnosis of transient symptomatic zinc deficiency was then established.
Transient symptomatic zinc deficiency is generally reported in premature infants but should also be considered in full-term, breast-fed infants, as in the present case.
我们报告了一例来自近亲父母的足月、母乳喂养的 7 个月大婴儿的肠病性肢端皮炎病例，该患儿有肠病性肢端皮炎家族史。
患儿表现为口周和对称性肢端皮损，促使我们回顾肠病性肢端皮炎的临床特征及其发病机制。实验室检查显示婴儿及其母亲的血清和母亲的乳汁中锌水平较低。
诊断为肠病性肢端皮炎。对患儿及其母亲的 SLC39A4 基因进行突变筛查，显示 c.1223_1227delCCGGG 杂合缺失。随后诊断为暂时性症状性锌缺乏症。
暂时性症状性锌缺乏症通常见于早产儿，但在本病例中也应考虑到足月、母乳喂养的婴儿。
