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 perioral, acral, and perianal skin erosions, alopecia, and diarrhea, with a significantly low serum zinc level of 0.19 mg/L. Genetic analysis identified a homozygous c.197G > T(p. C66F) mutation in the SLC39A4 gene. Following zinc supplementation and comprehensive treatment, the infant's skin lesions improved, hair regrew, and serum zinc level increased 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, and suggests that primary physicians should consider AE in infants with specific symptoms to avoid misdiagnosis and treatment delays.