A rare case of acrodermatitis enteropathica with typical clinical presentation in a 4-month-old girl

Abstract

Acrodermatitis enterohepatica (AE) is a rare autosomal recessive disorder characterized with the symptoms of alopecia, diarrhea, and anorexia along with polymorphic cutaneous manifestation ranging from erythematous plaques, papules, vesicles, bullae, and crusting. The condition is caused by a mutation of the SCL39A4 gene that leads to abnormality in the transport and absorption of zinc, an essential component for tissue development, differentiation, and growth. The condition is considered life threatening that requires prompt treatment to reduce the risk of morbidity of mortality. We report the case of a four-month-old female infant with typical manifestation of AE that was successfully treated with zinc supplementation. The aim of this study was to deepen this topic to push physicians to be more aware of this particular condition.

Access to Document

Other files and links

• Link to publication in Scopus

Fingerprint