Acrodermatitis enteropathica

Acrodermatitis enteropathica is an inherited metabolic disorder in which the lining of the bowel cannot absorb zinc properly. It is passed on in an autosomal recessive way and is linked to mutations in the SLC39A4 gene on chromosome 8, which encodes a zinc uptake protein. Because zinc is needed by roughly a hundred enzymes, the shortage shows up in several organs. Typical signs are inflamed skin around the mouth, nose and other body openings and on the tips of fingers and toes, hair loss, and diarrhea, and skin lesions can become infected by bacteria or yeast. Symptoms usually begin when an infant is weaned from breast milk. Diagnosis uses a plasma zinc level and skin biopsy examination. Without treatment the condition can be fatal within a few years, but lifelong dietary zinc supplementation controls it, although it is not a cure. It is also known as Brandt syndrome and Danbolt-Cross syndrome.