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肠病性肢端皮炎:一例报告

Acrodermatitis Enteropathica: A Case Report.

作者信息

Nistor Nicolai, Ciontu Lavinia, Frasinariu Otilia-Elena, Lupu Vasile Valeriu, Ignat Ancuta, Streanga Violeta

机构信息

From the Pediatrics Department (NN, O-EF, VVL, AI, VS), "Gr. T. Popa" University of Medicine and Pharmacy; and "St Mary" Children Emergency Hospital (LC), Iasi, Romania.

出版信息

Medicine (Baltimore). 2016 May;95(20):e3553. doi: 10.1097/MD.0000000000003553.

Abstract

Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very few erythematous lesions on the face. Due to the numerous bacterial skin superinfections with Staphylococcus aureus, including abscesses that required surgical incision, the clinical picture was modified, leading to a delayed establishment of the diagnosis. Later, the symptoms became suggestive for this disease, the diagnostic having been confirmed by low plasma zinc values. Under zinc therapy, skin lesions improved significantly in a few days, with favorable outcome. Two months later, the skin lesions almost disappeared.Abscesses due to bacterial skin superinfections may lead to initially misdiagnosed acrodermatitis enteropathica.

摘要

肠病性肢端皮炎是一种罕见的常染色体隐性遗传病,其特征为口周皮炎、脱发和腹泻。它是由编码一种结合锌的膜蛋白的基因突变引起的。我们报告一名14个月大的男孩,因腹股沟、肛周区域及大腿出现红斑、鳞屑和脓疱性皮损入院,面部仅有很少的红斑性皮损。由于多次发生金黄色葡萄球菌所致的细菌性皮肤二重感染,包括需要手术切开引流的脓肿,临床表现发生改变,导致诊断延迟。后来,症状提示为此病,血浆锌值降低确诊了诊断。在锌治疗下,皮肤损害在数天内显著改善,预后良好。两个月后,皮肤损害几乎消失。细菌性皮肤二重感染所致的脓肿可能导致肠病性肢端皮炎最初被误诊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e15/4902399/7328a1fd862e/medi-95-e3553-g001.jpg

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