O08 The elemental clue: a case series of Acrodermatitis enteropathica in a tertiary centre.

The mean age at presentation for Acrodermatitis enteropathica in this case series was 8 months.

• Six cases of AE were seen in a tertiary centre.
• Age range at presentation was 5–13 months.
• All patients presented with a characteristic well-demarcated crusted orofacial erythematous rash together with persistent erosive symmetrical anogenital involvement.

Exclusive breastfeeding was a predominant risk factor, identified in four of six patients (66%).

• Four patients (66%) were exclusively breast fed.
• Breast milk is highest in zinc in the first 1–2 months after which zinc content declines, corresponding with the typical age of presentation in breastfed infants.
• The mean age of presentation among breastfed infants was earlier, at 3.25 months (range: 3–5 months), compared to the overall mean of 8 months.

Prematurity was identified as a risk factor for acquired Acrodermatitis enteropathica, present in half of the cases.

• Three patients (50%) were born prematurely.
• The series highlights prematurity and exclusive breastfeeding as risk factors for developing acquired AE.

Low serum zinc levels were only documented in 66% of cases, indicating that normal zinc levels do not exclude the diagnosis.

• Low serum zinc levels were documented in 66% (4 of 6) of cases.
• Diagnosis is primarily based upon the dermatological presentation, demonstrating the importance of clinician familiarity with the presenting features.
• Only one patient had an identified defect in the zinc transporter gene SLC39A4.

All patients showed rapid clinical improvement following initiation of zinc supplementation therapy.

• All six patients were treated with zinc supplementation.
• Rapid clinical improvement was observed in all patients following initiation of therapy.

Hereditary AE is an autosomal recessive disorder caused by defects in the zinc transporter gene SLC39A4, resulting in impaired intestinal absorption of zinc.

• Acquired AE arises secondary to reduced intake, increased demand, or malabsorption.
• Zinc plays a key role in immune status, wound repair, gastrointestinal and metabolic function.
• AE is characterised by diarrhoea, recurrent infections, growth delay, and skin manifestations including periorificial and acrodermatitis.