Acrodermatitis Enteropathica

Acrodermatitis Enteropathica (AE) is a rare inherited or acquired disorder that results from zinc deficiency. It primarily affects the skin, gastrointestinal tract, and immune system. Here’s a comprehensive overview:

Acrodermatitis Enteropathica is a zinc absorption disorder, either genetic or acquired, characterized by:

• Eczematous or vesiculobullous skin lesions

• Diarrhea

• Hair loss (alopecia)

• Irritability and growth retardation (especially in infants and children)

🧬 Types:

1. Congenital (Hereditary) AE:

   • Autosomal recessive disorder.

   • Caused by mutation in the SLC39A4 gene, which encodes a zinc transporter protein (ZIP4).

   • Symptoms appear shortly after weaning from breast milk (usually in infancy).

2. Acquired AE:

   • Seen in premature infants, alcoholics, people with malabsorption syndromes, parenteral nutrition, or vegetarian diets.

   • Can occur at any age.

🧍‍♂️ Symptoms:

• Skin:

  • Red, inflamed, crusted lesions typically around:

    • Mouth (perioral area)

    • Eyes (periorbital area)

    • Genital and anal region

    • Hands and feet

• Hair:

  • Thinning or complete hair loss (alopecia)

• GI Symptoms:

  • Chronic diarrhea

  • Poor appetite

• Other:

  • Irritability

  • Growth failure

  • Increased susceptibility to infections (especially fungal and bacterial)

🔍 Diagnosis:

• Clinical features + Lab tests:

  • Low serum zinc levels

  • Low alkaline phosphatase levels (zinc-dependent enzyme)

• Genetic testing (for SLC39A4 mutations) confirms congenital AE.

• Skin biopsy: Nonspecific but may show psoriasiform or spongiotic dermatitis.

💊 Treatment:

• Zinc supplementation:

  • Lifelong oral zinc (usually 1-3 mg/kg/day of elemental zinc).

  • Dramatic improvement of symptoms within days of starting zinc.

• Monitor zinc levels regularly, especially in congenital cases.

🩺 Prognosis:

• Excellent with early diagnosis and continuous treatment.

• Delay in treatment can lead to serious infections, growth issues, and developmental delays.

📌 Key Points to Remember: