A clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene

Abstract

Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products, which makes it difficult to differentiate enteropathic acrodermatitis from allergic dermatoses. We describe a familial case of enteropathic acrodermatitis in a 4-month old girl with advanced skin lesions and diarrhea. The familial history positive for enteropathic dermatitis made it possible to immediately suspect this diagnosis in the patient and to administer a zinc sulfate-containing agent before the genetic test results have become available. The response to therapy was obtained within a few days. Genetic testing of the patient identified a new mutation in exon 10 of the SLC39A4 gene. Proper collection of the past history and physician's vigilance to zinc-deficient conditions in acral dermatitis combined with alopecia and diarrhea in infants would allow for a timely and proper diagnosis and choice of a subsequent management strategy.