皮肤性病诊疗学杂志2024，Vol.31Issue(9)：624-628,5.DOI:10.3969/j.issn.1674-8468.2024.09.008
遗传性肠病性肢端皮炎1例
Hereditary acrodermatitis enteropathica:A case report
摘要
Abstract
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 manifesta-tions 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 accompa-nied by yellowish-brown seborrheic thick scabs,yellowish purulent secretions with foul odor.Labo-ratory examination showed blood zinc levels of 4.2 μmol/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 8.7 μmol/L and 78 U/L,respectively.Pa-tient 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Key words
acrodermatitis enteropathica/heredity引用本文复制引用
李纪兵,陈光华,蒋金秋,李红梅,钱华,罗晓燕..遗传性肠病性肢端皮炎1例[J].皮肤性病诊疗学杂志,2024,31(9):624-628,5.基金项目
国家自然科学基金(81301380) （81301380）
苏州市医疗卫生应用基础研究(SYS 2018076) （SYS 2018076）
