NIH GARD

Zebra of the Week: Acrodermatitis enteropathica

May 12, 2025

Acrodermatitis enteropathica (AE) is a rare disorder of zinc metabolism that can be inherited or acquired. The inherited form is caused by mutations in the SLC39A4 gene, leading to an inability to absorb zinc from the intestine, while the acquired form results from diets lacking adequate zinc. AE typically presents in infancy or early childhood and is characterized by pustular dermatitis around the mouth and anus, chronic diarrhea, and nail dystrophy. Patients may also experience irritability and emotional disturbances. Diagnosis is based on clinical presentation and confirmed by genetic testing or zinc levels in the blood. Treatment involves zinc supplementation, which can dramatically improve symptoms and prevent complications. Early diagnosis and intervention are crucial for managing this condition effectively.

Source:

NIH GARD. (Accessed 2025, May 9). Acrodermatitis enteropathica. https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica