Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica...

BACKGROUND Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder caused by solute carrier family 39 member 4 (SLC39A4) gene variants that impair zinc absorption. Although typically associated with bacterial or fungal superinfection, its concurrence with Kaposi's varicelliform eruption (KVE) is exceptionally rare - only 1 case was previously reported. This report describes a case of KVE complicating AE in a patient with novel compound heterozygous SLC39A4 variants, highlighting the immunovirological implications of zinc deficiency. CASE REPORT An 8-year-old girl who had chronic dermatitis since infancy presented with a diffuse vesiculobullous rash. Physical examination revealed perioral and acral dermatitis, alopecia, and crusted vesicles consistent with KVE. Laboratory testing showed normal serum zinc levels (76.13 µg/dL) but reduced alkaline phosphatase (32 U/L). Genetic analysis identified compound heterozygous SLC39A4 variants: a maternal frameshift variant (c.522_523dup) and 3 paternal variants (c.925T>C, c.1782C>T, and c.1843C>T). The patient received oral zinc gluconate and topical crisaborole ointment, achieving complete resolution within 2 weeks. CONCLUSIONS This case demonstrates that AE may present with normal zinc concentrations, underscoring the diagnostic value of alkaline phosphatase. Genetic confirmation remains essential in atypical presentations. These novel variants broaden the mutational spectrum of SLC39A4 and emphasize the importance of early zinc supplementation and antiviral prophylaxis in patients with AE who display KVE risk.