遗传性肠病性肢端皮炎1例  

Hereditary acrodermatitis enteropathica:A case report

作　　者：李纪兵 陈光华[2] 蒋金秋[2] 李红梅[2] 钱华[1] 罗晓燕[2] LI Jibing;CHEN Guanghua;JIANG Jinqiu;LI Hongmei;QIAN Hua;LUO Xiaoyan(Children′s Hospital of Soochow University,Suzhou 215000,China;Children′s Hospital of Chongqing Medical University,Chongqing 400014,China)

机构地区：[1]苏州大学附属儿童医院,江苏苏州215000 [2]重庆医科大学附属儿童医院,重庆400014

出　　处：《皮肤性病诊疗学杂志》2024年第9期624-628,共5页Journal of Diagnosis and Therapy on Dermato-venereology

基　　金：国家自然科学基金(81301380);苏州市医疗卫生应用基础研究(SYS 2018076)。

摘　　要：报告1例遗传性肠病性肢端皮炎。患者男,12岁6个月,因口周、臀部反复红斑12年,加重2个月入院。父母系近亲结婚,患儿临床表现为反复发作的口周、鼻周、肛周、四肢关节部位皮炎改变,伴随腹泻、脱发及生长发育迟缓。皮肤科检查:头发、眉毛、腋毛完全脱落;口周、鼻周、眼周、腹股沟、臀部、膝肘关节伸侧、腕踝关节、手足部及指趾间见大片边界清楚红斑、斑块,部分附有黄褐色脂溢性厚痂,见黄色脓性分泌物,伴恶臭。实验室检查:血锌4.2μmol/L;碱性磷酸酶11 U/L。患儿及其父母基因检测结果均示:SLC39A4基因exon1纯合缺失。诊断:遗传性肠病性肢端皮炎。治疗:入院后予补锌、抗感染等治疗10 d后,患者腹泻症状好转,皮疹逐渐干涸结痂。复查血锌8.7μmol/L;碱性磷酸酶78 U/L。出院后嘱继续补锌治疗,随访1个月,患儿头皮、眉弓出现较多新生毛发,原有皮疹基本消退,皮损愈合,遗留色素沉着。We report a case of hereditary acrodermatitis enteropathica.A 12-year old boy was admitted to the hospital due to recurrent skin erythema around the mouth and buttocks for 12 years and aggravation for 2 months.He was born from consanguineous marriage.The clinical manifestations included recurrent dermatitis around the mouth,nose,anus,and limb joints,accompanied by diarrhea,hair loss,and delayed growth and development.Dermatological examination revealed complete loss of hair on the head,eyebrows and armpits.Well-defined erythema and plaques were seen around the mouth,nose,eyes,groins,buttocks,extensors of knees and elbows,wrists and ankle joints,hands and feet,and skin between the fingers and toes,some of which were accompanied by yellowish-brown seborrheic thick scabs,yellowish purulent secretions with foul odor.Laboratory examination showed blood zinc levels of 4.2μmol/L and alkaline phosphatase content of 11 U/L.The gene detection of the patient and his parents showed a homozygous deletion of exon 1 in the SLC39A4 gene.Patient was diagnosed with hereditary acrodermatitis enteropathica.Following 10 days of zinc supplement and anti-infection,diarrhea was improved and the rash gradually subsided.The blood levels of zinc and alkaline phosphatase were 8.7μmol/L and 78 U/L,respectively.Patient continued to take zinc supplement after discharge.Hair appeared on the scalp and eyebrows at one-month follow-up.Skin lesions almost completely healed with hyperpigmentation.

关 键 词：肠病性肢端皮炎 遗传性 

分 类 号：R758.5[医药卫生—皮肤病学与性病学] R725.7[医药卫生—临床医学]