A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica

Abstract

Conflicts of interest: none declared. Acrodermatitis enteropathica (AE, OMIM 201100) is an autosomal recessive disease characterized by skin findings caused by defective intestinal zinc absorption. The skin lesions include erythema, erosions and small blisters in the perioral and perianal regions, hands and feet, which develop soon after weaning.1 The AE gene has recently been identified as SLC39A4.2 This gene, located on chromosomal region 8q24.3, encodes a novel zinc transporter protein belonging to the ZIP (zinc/iron‐regulated transporter‐like protein) family.3 It was found mutated in several distinct families with AE coming from Europe, North Africa, Japan and the Middle East.4 5–6 We report a 23‐month‐old boy with AE who exhibits a new mutation in exon 11 of the SLC39A4 gene. This is the first report on the screening of SLC39A4 mutations from Turkey. A 23‐month‐old boy, who was born to first‐degree consanguineous parents, presented with vesicular and crusted lesions together with well‐defined, erythematous, moist plaques on perioral, perigenital and perianal regions that he had had since 15 months of age. He had intermittent diarrhoea, recurrent respiratory tract infections and a 2‐month history of irritability. He had been weaned from breast feeding at 8 months of age.