Acrodermatitis enteropathica is characterized by chronic Diarrhea which may be mild or severe, and the presence of fatty substances in the feces (steatorrhea). In the congenital form symptoms start gradually, frequently 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), usually also occurs.
The blood zinc level in people with the congenital form of this disorder is abnormally low, although rarely normal blood zinc levels have also been observed.
A separate type of transient zinc deficiency in infants can result from a different congenital abnormality – but one which is not in the infant but rather in the mother. Notably in some lactating women, a zinc-binding factor produced by the pancreas and present in human milk may be lacking. Breast-fed infants of these women may also develop lowered blood levels of zinc with other symptoms of this disorder, because the milk is deficient in the proper amount of the zinc- binding factor. Once an alternative source of oral zinc is introduced into the infant’s diet (e.g. formula milk) the zinc deficiency rectifies and the infant is cured.
With treatment, all patients with acrodermatitis enteropathica can lead normal lives.
Frequently, long remissions may occur, usually starting during puberty. However, in rare cases, women may have a recurrence of the disorder during pregnancy and increased zinc supplementation may be necessary.