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

S.C.I Ip, D.L. Cottle, L.K. Jones, J.M. Weir, D.P. Kelsell, E.A. O'Toole, P. J. Meikle, I.M. Smyth

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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.
Original languageEnglish
Pages (from-to)e217-e219
Number of pages3
JournalBritish Journal of Dermatology
Issue number5
Publication statusPublished - Nov 2017

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