Acrodermatitis enteropathica (AE) is a metabolic disorder that is associated with Zinc deficiency, and is caused by a defect in the absorption of Zinc. It is also known as Brandt syndrome, Dan bolt-close syndrome and Zinc deficiency syndrome. Acrodermatitis enteropathica can be inborn or acquired. The inborn form of AE is a rare genetic disorder and is caused by intestinal abnormalities that result in the inability to absorb zinc from the intestine.
The acquired form of acrodermatitis enteropathica can result from the failure of the mother to secrete zinc into the breast milk. It can also occur after a surgery that bypasses the upper intestine or from special nutritional programs that contains inappropriate amount of Zinc.
The lack of Zinc in the body can manifest in various forms such as,
- Skin inflammation with pimples around the mouth or anus.
- Abnormal nails.
- Irritability and emotional disturbances.
What is the cause of Acrodermatitis enteropathica?
Acrodermatitis enteropathica is caused by a mutation in the Zinc transporter gene SLC39A4, which leads to improper Zinc absorption. The gene SLC39A4 on the chromosome 8q24.3 codes for ZIP4 which is the Zinc binding protein that absorbs Zinc from the cell exterior into the cytoplasm, where they are available for other proteins.
Therefore, when a mutation occurs in this particular gene, it results in abnormal zinc absorption. Another mutation in the SLC30A2 gene on chromosome 1p36.11 in the mother results in decreased secretion of Zinc into the breast milk. This results in the acquired form of acrodermatitis enteropathica.
Signs and symptoms of AE, Brant syndrome
- Chronic diarrhea, which may be mild or severe.
- Presence of fatty substances in the feces.
- The skin around the mouth, anus and eyes, and the skin on elbows, knees, hands and feet become inflamed.
- Abnormal nail which may be due to malnourished tissue.
- Hair loss on the scalp, eyelids and eyebrows may be total (Alopecia).
- In acquired AE due to mother’s inability to secrete zinc in breast milk, low blood Zn level is observed.
Treatment of Acrodermatitis enteropathica, Brandt syndrome
AE can be managed by supplementing zinc in diets. The supplement should be given immediately the disorder is diagnosed.
The drug, diodoquin (Iodoquinol) clears up symptoms of AE within a week.