397 Characterization of ABCA12 gene variant by electron microscopy in an infant with an ichthyosiform dermatitis and MALT1 deficiency

Abstract

The ABCA12 gene encodes an ATP-binding cassette transporter vital to skin barrier function. In keratinocytes, ABCA12 transports ceramides into the lumen of lamellar bodies as part of the widely conserved water barrier system. Alterations in the ABCA12 gene are associated with the autosomal recessive congenital ichthyoses: harlequin ichthyosis, non-bullous congenital ichthyosiform erythroderma, and lamellar ichthyosis. We report a 4-month-old female who presented with erythroderma, diffuse fine scale, and recurrent infections.