Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
December 2015
in “
International journal of immunopathology and pharmacology
”
Studysummary A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad. Our plain-language summary of this paper — not a Tressless recommendation.
The document discussed the genetic and clinical variability of acrodermatitis enteropathica (AE), a rare disorder caused by mutations in the SLC39A4 gene affecting zinc absorption. It presented a case of an 11-month-old boy with mild AE symptoms and a novel SLC39A4 mutation, who improved rapidly with zinc supplementation. The study emphasized the importance of genetic testing for accurate diagnosis, even in atypical cases, and highlighted the need for better understanding of genotype-phenotype correlations. The review underscored the necessity of early diagnosis and treatment to prevent severe complications.
