Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea. It can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur.
Similar features may be present in acquired zinc deficiency. This disease also is related to deficiency of zinc due to congenital causes.
- Chronic diarrhea (mild or severe)
- The presence of fatty substances in the feces (steatorrhea)
- In the congenital form symptoms start gradually at the time of weaning of an infant
- The skin around body openings such as the mouth, anus, and eyes, and the skin on elbows, knees, hands, and feet become inflamed
- Skin lesions are usually blistered (vesicobullous) and after drying out become psoriasis-like
- The skin around the nails may also be inflamed and the nail may be abnormal due to malnourished tissue
- Hair loss on the scalp, eyelids, and eyebrows may be total (alopecia)
- Inflammation of the membrane that lines the eyelid (conjunctivitis)
- Blood zinc level is abnormally low
- Long remissions may occur, usually starting during puberty
- Women may have a recurrence of the disorder during pregnancy (in rare cases)
- Short stature
- Abnormality of the eyebrow
- Cerebral cortical atrophy
The congenital form of acrodermatitis enteropathica is transmitted as an autosomal recessive genetic disorder. It appears to be the result of mutations in the SLC39A4 gene. It is thought that the missing protein may be responsible for decreased zinc uptake and abnormal zinc metabolism.
All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
Without treatment, the disease is fatal and affected individuals may die within a few years. There is no cure for the condition. Treatment includes lifelong dietary zinc supplementation in the range of greater than 1-2 mg/kg of bodyweight per day. Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.