Acrodermatitis enteropathica

Background

• Disorder of zinc metabolism (either congenital mutation, abnormal zinc characteristics in mother's breast milk, or due to surgery affecting upper GI tract) that leads to effective zinc deficiency

Clinical Features

• Diarrhea, steatorrhea
• Irritation/inflammation of skin around body openings (e.g. mouth, anus, eyes, hands/feet)
  • Typically vesiculobullous initially, then dry and resemble psoriasis rash
• Nails may become abnormal
• Alopecia
• Conjunctivitis

Differential Diagnosis

Vitamin deficiencies

• Vitamin A deficiency
• Vitamin B deficiencies
  • Vitamin B1 deficiency (Thiamine)
    • Beriberi
    • Wernicke-Korsakoff syndrome
  • Vitamin B3 deficiency (Pellagra)
  • Vitamin B9 deficiency (Folate)
  • Vitamin B7 deficiency (Biotin)
  • Vitamin B12 deficiency
• Vitamin C deficiency (Scurvy)
• Vitamin D deficiency (Rickets)
• Vitamin E deficiency
• Vitamin K deficiency
• Zinc deficiency
  • Acrodermatitis enteropathica

Evaluation

• Serum zinc level typically low
• Reduced serum alkaline phosphatase levels often supportive evidence for zinc deficiency, as zinc is a cofactor for alkaline phosphatase activity

Management

• Zinc sulfate supplementation (13.2 mg/kg/day, totaling ~3mg/kg/day of elemental zinc)
• Monitor zinc levels every 4-6 months

External Links

• https://rarediseases.org/rare-diseases/acrodermatitis-enteropathica/