Acrodermatitis Enterohepatica

Acrodermatitis enteropathica (AE)
  • It is an autosomal recessive disorder of zinc absorption.
  • It presents in infancy, characterized by a triad of acral dermatitis (face, hands, feet, anogenital area), alopecia, and diarrhea.
  • These infants have a defect in an intestinal zinc transporter, the human ZIP4 protein encoded on the SLC39A4 gene.
  • Mutations in this gene prevents appropriate enteral zinc absorption.
  • AE classically presents during infancy on weaning from breast milk to formula or cereal, which have lower zinc bioavailability than breast milk.
  • Zn supplementation rapidly improves condition.
  • Oral zinc in a dose of about 2 mg/kg/day.
Symptoms of Zinc Deficiency
  • Poor Immune system
  • Weight loss
  • Intercurrent infections
  • Hypogonadism in males
  • Lack of sexual development in females
  • Growth retardation
  • Dwarfism
  • Delayed puberty in adolescents
  • Rough skin
  • Poor appetite
  • Mental lethargy
  • Delayed wound healing
  • Short stature
  • Diarrhea
Exam Question
  • Lifelong treatment required in Acrodermatitis enteropathica.
  • Dose of zinc used in acrodermatitis enteropathica is 2 mg/kg.
  • Acrodermatitis enteropathica is a rare autosomal recessive disorder caused by an inability to absorb sufficient Zinc from the diet.Symptoms improve with zinc supplementation Acrodermatitis enteropathica causes diarrhoea and dermatitis but no dementia.
  • Denuded skin around mucocutaneous junction is seen in Acrodermatitis enteropathica .
  • A child with alopecia, hyperpigmentation psoriatic dermatitis in genitals & mouth and hypogonadism is likely to be suffering from Zn deficiency.
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