Is Acrodermatitis Enteropathica hereditary?

Acrodermatitis enteropathica is a rare hereditary disorder, meaning it is passed down through families due to specific genetic mutations. It follows an autosomal recessive inheritance pattern, which means an individual must inherit two copies of the mutated gene—one from each parent—to develop the condition.

Is Acrodermatitis enteropathica strictly genetic?

Yes, Acrodermatitis enteropathica is a genetic condition caused by mutations in the SLC39A4 gene. This gene provides instructions for creating a protein responsible for zinc absorption in the intestine. Because it is an inherited condition, it is present from birth, though symptoms may not manifest until an infant is weaned from breast milk, as breast milk contains factors that temporarily assist with zinc uptake.

What is the inheritance pattern of Acrodermatitis enteropathica?

Acrodermatitis enteropathica is inherited in an autosomal recessive manner. This means that if both parents are asymptomatic carriers of a mutation in the SLC39A4 gene, the risks for their children are as follows:

• 25% chance of the child having the condition.


• 50% chance of the child being an asymptomatic carrier like the parents.


• 25% chance of the child inheriting two normal genes.

How is genetic testing utilized for this condition?

Genetic testing is the gold standard for confirming a diagnosis of Acrodermatitis enteropathica. Molecular genetic testing identifies pathogenic variants in the SLC39A4 gene. While clinical diagnosis is often based on low serum zinc levels and characteristic skin rashes, genetic testing is recommended for definitive diagnosis, family planning, and to distinguish it from acquired zinc deficiency.

Are de novo mutations common in Acrodermatitis enteropathica?

De novo (spontaneous) mutations are rare in Acrodermatitis enteropathica. In the vast majority of cases, the condition is inherited from parents who are both carriers. Because it is a recessive trait, the disease often appears to "skip" generations, making genetic counseling essential for families with a history of the condition.

Next steps

• Consult a clinical geneticist to discuss genetic testing options for you and your family.


• Seek genetic counseling before pregnancy if you have a family history of Acrodermatitis enteropathica.


• Connect with the 1 member currently sharing their experience with this rare condition on DiseaseMaps.org.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases (GARD) Information Center: Acrodermatitis enteropathica.


• Orphanet: Rare disease database entry for Acrodermatitis enteropathica.


• OMIM (Online Mendelian Inheritance in Man): Entry #201100 regarding SLC39A4 mutations.