A 14-month-old girl diagnosed with acrodermatitis enteropathica with SLC39A4 gene mutation

Abstract

Acrodermatitis enteropathica is a rare disease caused by a mutation in the SLC39A4 gene and is characterized by dermatitis, alopecia, and diarrhea. A 14-month-old girl, who was brought to the outpatient clinic with complaints of restlessness and rash on the diaper area, anterior leg, and toes, had previously used topical steroids and antibiotics with the diagnosis of atopic dermatitis, but the lesions did not regress. Based on the history and clinical findings, acrodermatitis enteropathica was considered in the patient, and the diagnosis was confirmed by genetic analysis showing a homozygous mutation in the SLC39A4 gene. This case, being one of the rare patients in the literature whose diagnosis has been confirmed by genetic testing, is reported here to emphasize that AE should be kept in mind in the differential diagnosis of diseases with skin manifestations in childhood.