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Acrodermatitis

机译:肢端皮炎

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摘要

Acrodermatitis enteropathica (AE) is a rare autosomal recessive inherited form of zinc deficiency caused by a mutation of the SLC39A4 gene, which encodes the zinc/iron-regu!ated, transporter-like protein, which is located on chromosome 8q24.3. AE presents during infancy with the classic clinical triad of acral dermatitis, alopecia, and diarrhea. The cutaneous manifestations of AE typically occur within 1 to 2 weeks upon weaning the child from breast milk; however this may vary based upon the etiology. Here is an atypical case of delayed onset AE in a 3-year-old Caucasian female.
机译:肠炎性皮炎(AE)是一种罕见的常染色体隐性遗传性锌缺乏症,由SLC39A4基因突变引起,后者编码锌/铁调控的转运蛋白样蛋白,位于染色体8q24.3上。 AE在婴儿期以经典的临床三联征出现,即急性皮肤炎,脱发和腹泻。婴儿断奶后,AE的皮肤表现通常会在1-2周内发生;但是,这可能会因病因而异。这是一名3岁高加索女性延迟发作AE的非典型病例。

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