Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation

Area of Science:

• Genetics
• Dermatology
• Pediatrics

Background:

• Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of zinc malabsorption.
• Genetic defects in the SLC39A4 gene are a known cause of AE.
• Early diagnosis and treatment are crucial for managing AE symptoms.

Observation:

• A 9-year-old girl presented with recurrent skin rash (perioral, anogenital, acral), alopecia, and recurrently low serum zinc levels.
• Clinical improvement was observed following continuous zinc supplementation.
• Genetic analysis revealed compound heterozygous mutations (c.1466dupT and c.295G>A) in the SLC39A4 gene.

Findings:

• The patient's symptoms significantly improved with zinc therapy.
• The identified SLC39A4 mutations were confirmed in the patient and her parents, who were heterozygous carriers.
• This case supports the link between SLC39A4 mutations and acrodermatitis enteropathica.

Implications:

• This case report provides valuable clinical data on a specific SLC39A4 genotype-phenotype correlation in acrodermatitis enteropathica.
• It emphasizes the importance of genetic testing for diagnosing AE, especially in cases with atypical presentations.
• Further research into SLC39A4 mutations may lead to improved diagnostic and therapeutic strategies for AE.