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Abstract

Harlequin ichthyosis (HI) is the most severe and devastating form of the autosomal recessive congenital ichthyoses (ARCIs). Mutations in the ABCA12 gene result in disruption of intercellular lipid deposition in the stratum corneum and a major skin barrier defect. Patients present at birth, often premature, with cutaneous thick, yellow, hyperkeratotic plates with deep erythematous fissures, causing a typical facial appearance. Harlequin ichthyosis has often been considered to be fatal, and management tends to be palliative, but follow-up of 45 affected infants has shown that with good neonatal care and early introduction of oral retinoids, survival rates are improving. Because ABCA12 mutations have been identified, known carriers are able to undergo preventative preimplantation and prenatal genetic testing. Experimental studies have shown recovery of lipid secretion in lamellar granules using corrective gene therapy. Further research is needed to develop alternative therapies to retinoids in HI.