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This case report of an infant with IPEX syndrome highlights the importance of early recognition and treatment, as the patient experienced severe symptoms and succumbed before stem cell transplantation.

In this case report, a 7-month-old girl with suspected acrodermatitis enteropathica and severe dermatitis experienced a tragic outcome despite zinc treatment, highlighting the challenges of diagnosing and managing this rare genetic disorder.

In this case report, a 10-month-old ethnic minority infant from Xinjiang with acrodermatitis enteropathy improved clinically and biochemically after zinc supplementation, underscoring the importance of early genetic testing for SLC39A4 mutations and individualized zinc therapy in managing this disorder.

This case report describes a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy due to a SLC39A4 genetic mutation, showing clinical improvement in skin, hair, and zinc levels following zinc supplementation and highlighting the importance of early diagnosis and tailored treatment.

In this case study, a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy caused by an SLC39A4 gene mutation showed clinical improvement and increased zinc levels following zinc supplementation, highlighting the importance of early genetic testing and customized treatment in managing the disorder.