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 Uyghur infant from Western China with acrodermatitis enteropathica (AE), a rare genetic disorder due to a mutation in the SLC39A4 gene affecting zinc absorption. The infant, initially misdiagnosed, showed symptoms like dermatitis, alopecia, and diarrhea. Genetic testing identified a novel mutation, c.197G > T (p.C66F), potentially specific to the Uyghur population. Treatment with high-dose zinc supplementation led to significant symptom improvement, including hair regrowth. The report underscores the importance of genetic testing for accurate diagnosis and lifelong zinc supplementation in AE, while also highlighting the need for awareness of rare diseases in remote areas. However, the study's conclusions are limited by its single-case nature and lack of experimental validation of the mutation's impact. Future research should focus on genetic diversity and precision treatment strategies for AE.