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ACRODERMATITIS ENTEROPATHICA: CLINICAL MANIFESTATIONS AND PEDIATRIC DIAGNOSIS

Ieda Regina Lopes Del Ciampo1,2, Regina Sawamura2, Luiz Antonio Del Ciampo2

  • 1Universidade Federal de São Carlos, São Carlos, São Paulo, Brasil.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo
|February 8, 2018
PubMed

Insights

Acrodermatitis enteropathica, a rare genetic disorder, causes skin lesions and infections due to zinc deficiency. Early diagnosis and zinc sulfate supplementation are crucial for recovery and preventing complications in affected infants.

Area of Science:

  • Pediatric Dermatology
  • Clinical Genetics
  • Nutritional Medicine

Background:

  • Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder.
  • It results from impaired zinc absorption, leading to zinc deficiency.

Observation:

  • An 11-month-old boy presented with characteristic skin lesions, diarrhea, fever, and recurrent infections.
  • Laboratory tests revealed significantly low serum zinc levels (27.0 mcg/dL).

Findings:

  • Oral zinc sulfate supplementation (2.0 mg/kg/day) led to rapid clinical improvement.
  • Symptom recurrence upon cessation of zinc supplementation confirmed the diagnosis.

Implications:

  • Prompt recognition and treatment of AE are vital.
  • Effective management prevents severe complications and improves patient outcomes.
  • Highlights the importance of zinc in infant health and development.
Abstract

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