Horth Damy, Auger Isabelle
Department of Dermatology, Université Laval, Québec, QC, Canada.
SAGE Open Med Case Rep. 2025 May 13;13:2050313X251341516. doi: 10.1177/2050313X251341516. eCollection 2025.
Zinc deficiency can be inherited, such as in the case of acrodermatitis enteropathica or acquired. In both cases, patients will present typical acral and periorificial skin lesions, and seldom, diarrhea as well as secondary alopecia. In this report, we provide a case of transient neonatal zinc deficiency in a 3-month-old breastfed girl who presented with classical skin lesions of zinc deficiency. The diagnosis was determined following the results of blood tests, which indicated a combination of low plasma phosphatase alkaline and zinc levels. To support the diagnosis, genetic testing was performed on the mother to detect a mutation in the SLC30A2 gene. However, the results were inconclusive as a variant of unknown significance was found. After starting zinc supplementation, the skin lesions completely resolved a few weeks later without any recurrence.
锌缺乏可以是遗传性的，如肠病性肢端皮炎的情况，也可以是后天获得的。在这两种情况下，患者都会出现典型的肢端和口周皮肤病变，很少会出现腹泻以及继发性脱发。在本报告中，我们提供了一例3个月大母乳喂养女婴的短暂性新生儿锌缺乏病例，该女婴出现了锌缺乏的典型皮肤病变。根据血液检测结果做出诊断，结果显示血浆碱性磷酸酶和锌水平均较低。为支持诊断，对母亲进行了基因检测以检测SLC30A2基因的突变。然而，结果尚无定论，因为发现了一个意义不明的变异体。开始补充锌后，几周后皮肤病变完全消退，未再复发。
