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

Acrodermatitis enteropathica (AE) is a rare disorder of zinc deficiency which may be hereditary or acquired. 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, an essential micronutrient 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. We report six cases of AE seen in a tertiary centre. The mean age at presentation was 8 months (5-13 months). All patients presented with a characteristic well-demarcated crusted orofacial erythematous rash together with persistent erosive symmetrical anogenital involvement. One patient had an identified defect in the zinc transporter gene. Four patients (66%) patients were exclusively breast fed and three (50%) were born prematurely. The mean age of presentation among breastfed infants was earlier, at 3.25 months (range: 3-5 months). Low serum zinc levels were documented in 66% of cases. All patients were treated with zinc supplementation and showed rapid clinical improvement following initiation of therapy. This series highlights risk factors for developing acquired AE, including prematurity and exclusive breastfeeding. Breast milk is highest in zinc in the first 1-2 months after which zinc content declines 1, corresponding with the typical age of presentation in breastfed infants. Diagnoses is primality based upon the dermatological presentation demonstrating the importance of clinician familiarity of the presenting -features.

Abstract sourced from PubMed (NCBI) for the cited record. See the original publication for the authoritative version.

Acrodermatitis enteropathica (AE) is a rare disorder of zinc deficiency which may be hereditary or acquired.

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