Acrodermatitis Enteropathica

Abstract

Acrodermatitis Enteropathica (AE) is an inherited autosomal recessive disorder caused by a mutation in the SLC39A4 gene coding for the hZip4 zinc transporter, which affects intestinal zinc absorption and metabolism. The defect in this zinc transporter in AE leads to reduction of all body zinc levels, including measureable blood serum zinc. Though it was first described by Brandt in 1936, AE remains largely misdiagnosed and it is often fatal if not correctly recognized and treated promptly during infancy. This study examined a cohort of Iranian zinc deficient children to better characterize the symptoms of AE. This study surveyed 27 infant patients with severe zinc deficiency that is suggestive of AE, who were referred to Razi Hospital’s Dermatology Center in Tehran during the years 1999 to 2004. The objectives of the study were to determine the symptoms and blood zinc level ranges of the infants and determine the relationship between the two. Multivariate analyses were used to determine the symptoms significantly associated with zinc deficiency (p < 0.05). As a result, the AE symptoms can be listed as perioral, perinasal, perigenital, and perirectal lesions, acral lesions and lesions on fingers, hands, elbow and feet, diarrhea and upset stomach, diffuse alopecia, and neurological symptoms like fatigue, moodiness, irritability, photophobia, and anorexia. On the contrary, symptoms such as periorbital lesions, lesions on toes, vomiting, and focal alopecia were determined to be insignificant and should no longer be regarded as symptoms of AE.