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Published on: May 16, 2019
Transient symptomatic zinc deficiency in a breast-fed infant: relevance of a genetic study
Nadia El Fékih1, Kharfi Monia, Sebastien Schmitt
1Department of Dermatology, Hôpital Charles Nicolle, Tunis, Tunisia. fekih.nadia@planet.tn
Insights
Acrodermatitis enteropathica, a zinc deficiency disorder, can occur in full-term infants. This case highlights the importance of considering zinc deficiency in breast-fed infants presenting with characteristic skin lesions.
Area of Science:
- Pediatrics
- Genetics
- Dermatology
Background:
- Acrodermatitis enteropathica (AE) is a rare genetic disorder of zinc malabsorption.
- It typically presents in early infancy with characteristic skin lesions and failure to thrive.
- Genetic mutations in the SLC39A4 gene are a known cause of AE.
Observation:
- A 7-month-old, full-term, breast-fed infant with a family history of AE presented with periorificial and acral skin lesions.
- Laboratory investigations revealed low zinc levels in the infant, mother, and breast milk.
- Genetic analysis identified a deletion mutation (c.1223_1227delCCGGG) in the SLC39A4 gene in the infant and mother.
Findings:
- The infant was diagnosed with acrodermatitis enteropathica.
- Genetic findings confirmed heterozygosity for a pathogenic SLC39A4 gene deletion.
- The diagnosis of transient symptomatic zinc deficiency was established.
Implications:
- This case underscores that AE should be considered in full-term, breast-fed infants, not just premature infants.
- Early diagnosis and zinc supplementation are crucial for managing AE and preventing complications.
- Genetic counseling and testing are important for families with a history of AE.
Objective:
We present a case of acrodermatitis enteropathica in a full-term, breast-fed, 7-mo-old infant born from consanguineous parents with a family history of acrodermatitis enteropathica.
Methods:
The patient presented with periorificial and symmetric acral lesions, which prompted us to review the clinical features of acrodermatitis enteropathica and its pathogenesis. Laboratory investigations showed low zinc levels in the infant's and mother's sera and in the mothers' milk.
Results:
A diagnosis of acrodermatitis enteropathica was made. A mutation screening of the SLC39A4 gene in the patient and his mother showed heterozygosity for the deletion c.1223_1227delCCGGG. The diagnosis of transient symptomatic zinc deficiency was then established.
Conclusion:
Transient symptomatic zinc deficiency is generally reported in premature infants but should also be considered in full-term, breast-fed infants, as in the present case.
