BJD Research Letter: A profile of lipid dysregulation in Harlequin Ichthyosis

Abstract

Harlequin Ichythosis (HI) is a severe skin disease caused by mutations in the lipid transport protein, ABCA12. This disrupts extracellular lipid deposition; limiting barrier function and resulting in the differentiation of a thickened, restrictive epidermis. This phenotype is at least partially recapitulated in mouse models of disease. While patients¹ (and HI mice²) exhibit a partial phenotypic correction after birth, they still require a life-long regime of frequent bathing, mechanical desquamation and emollient application.

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