Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption

This case study presents an 8-year-old girl with acrodermatitis enteropathica (AE) complicated by Kaposi’s varicelliform eruption (KVE), linked to novel compound heterozygous variants of the SLC39A4 gene. Despite normal serum zinc levels, the patient showed AE symptoms like dermatitis and alopecia, with zinc dysregulation indicated by reduced alkaline phosphatase. Genetic testing revealed maternal and paternal SLC39A4 variants affecting zinc transporter function. Treatment with oral zinc and topical crisaborole resolved symptoms in 2 weeks. The study emphasizes the importance of genetic testing over biochemical markers for AE diagnosis and the need for early zinc supplementation and antiviral prophylaxis in patients at risk for KVE. It also highlights the necessity of SLC39A4 sequencing and HSV testing in persistent acral dermatitis cases to guide treatment.