Pseudoacrodermatitis enteropathica due to transient zinc deficiency

Acrodermatitis enteropathica (AE) is a autosomal recessive syndrome of zinc deficiency. It classically presents with triad of periorificial and acral dermatitis, diarrhoea and total alopecia, seen in only a small fraction of cases. Transient neonatal zinc deficiency (TNZD) due to mutation of SLC30A2 leading to a AE like presentation was reported recently in Clinical and Experimental dermatology journal.

A 4-month-old girl presented with a 1-month history of a rash on her lower lip, chin, neck and anogenital area. She was exclusively breastfed but had recurrent diarrhoea. On physical examination, well-demarcated, symmetrical erythematous scaly plaques were present over the lower lip, chin, neck, axillae, antecubital fossae and anogenital area. There was no hair loss.

Baseline investigations were normal. Serum zinc levels were low (< 1 μmol/L; normal range 11–24 μmol/L). Alkaline phosphatase, a zinc dependent enzyme, was also low (60 U/L; 90–448 U/L). On further investigation authors found that mother's breast milk had low zinc concentration. Genetic testing for the SLC39A4 mutation, found in AE was negative. The patient was started on zinc sulphate 3 mg/kg/day leading to rapid resolution of symptoms.