Characterized by a triad of clinical features - acral dermatitis, diarrhea and alopecia – it invariably presents in infancy and, in particular, at the time of weaning. Signs and symptoms in infancy can include diarrhea, mood changes, anorexia, and neurological disturbance.
The dermatological condition may mimic a cutaneous fungal infection or other pathogen related skin diseases.
The deficiency is caused by a defect of dietary zinc absorption in the duodenum and jejunum. The gene SLC39A4, located in chromosome 8q24.3, codifies the transmembrane protein required for zinc absorption, which is expressed in the duodenum and jejunum, and its mutation reduces the intestinal ability to absorb dietetic zinc. SLC39A4 is a specific protein for transporting zinc and iron.
Zinc is an essential co-enzyme in metal enzymes (like alkaline phosphatase); it is an important structural component of gene regulatory proteins (required, for example, for the intracellular binding of tyrosine kinase to T-cell receptors) and it has also a function in regulation (has the ability to regulate gene expression).
Acquired zinc deficiency is caused mainly by prolonged parenteral central venous nutrition, excision of the digestive tract, or severe diarrhea or vomiting.
Acrodermatitis enteropathica
