Clinical Features and Genetic Analysis of Acrodermatitis Enteropathica in an Ethnic Minority Infant from Western China: A Case Report and Literature Review

This case report describes a 10-month-old minority ethnic infant from Xinjiang, China, diagnosed with acrodermatitis enteropathica (AE), a rare disorder caused by mutations in the SLC39A4 gene. The infant presented with dermatitis, alopecia, and diarrhea, and had a significantly low serum zinc level of 0.19 mg/L. Genetic analysis identified a homozygous mutation in the SLC39A4 gene. Treatment with zinc supplementation led to improvement in skin lesions, hair regrowth, and an increase in serum zinc level to 0.62 mg/L. This case highlights the importance of early genetic testing and individualized zinc therapy in managing AE, particularly in diverse ethnic groups, to prevent misdiagnosis and treatment delays.