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Hereditary acrodermatitis enteropathica
See also in: Anogenital
Other Resources UpToDate PubMed

Hereditary acrodermatitis enteropathica

See also in: Anogenital
Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Acrodermatitis enteropathica is a rare autosomal recessive disease caused by abnormal zinc absorption due to a transport deficiency across the small intestine. The disease typically presents when the child is weaned from breast milk to cow's milk, or after 4-10 weeks in exclusively formula-fed infants. The characteristic skin eruption is typically the first clinical sign of disease. The affected infant may also exhibit failure to thrive, apathy, irritability, photophobia, diarrhea, and alopecia.

Identical clinical findings may result from acquired zinc deficiency due to other causes. It may be seen in premature infants who are exclusively breast fed in the setting of increased metabolic demands and declining levels of zinc in the mother's breast milk. Zinc deficiency has rarely been linked to a defect in the transfer of zinc into breast milk. Historically, it was seen in infants receiving parenteral nutrition, although zinc supplementation has now become routine. Since late 2012, however, injectable zinc, which is used in parenteral nutrition formulations, periodically has been on the drug shortage list in the United States; thus clinicians should be aware of the possibility that hereditary acrodermatitis enteropathica can be mimicked in infants receiving parenteral nutrition formulations because of a disease such as biliary atresia.

For more information, see OMIM.

Codes

ICD10CM:
E83.2 – Disorders of zinc metabolism

SNOMEDCT:
37702000 – Hereditary acrodermatitis enteropathica

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Last Updated:09/10/2020
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Hereditary acrodermatitis enteropathica
See also in: Anogenital
Hereditary acrodermatitis enteropathica : Diarrhea, Rash, Acral distribution, Failure to thrive, Irritability, Skin erosion
Clinical image of Hereditary acrodermatitis enteropathica
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