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

Research output: Contribution to journalLetterResearchpeer-review

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.
Original languageEnglish
Pages (from-to)e217-e219
Number of pages3
JournalBritish Journal of Dermatology
Volume177
Issue number5
DOIs
Publication statusPublished - Nov 2017

Cite this

Ip, S.C.I ; Cottle, D.L. ; Jones, L.K. ; Weir, J.M. ; Kelsell, D.P. ; O'Toole, E.A. ; Meikle, P. J. ; Smyth, I.M. / BJD Research Letter : A profile of lipid dysregulation in Harlequin Ichthyosis. In: British Journal of Dermatology. 2017 ; Vol. 177, No. 5. pp. e217-e219.
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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.",
author = "S.C.I Ip and D.L. Cottle and L.K. Jones and J.M. Weir and D.P. Kelsell and E.A. O'Toole and Meikle, {P. J.} and I.M. Smyth",
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BJD Research Letter : A profile of lipid dysregulation in Harlequin Ichthyosis. / Ip, S.C.I; Cottle, D.L.; Jones, L.K.; Weir, J.M.; Kelsell, D.P.; O'Toole, E.A.; Meikle, P. J.; Smyth, I.M.

In: British Journal of Dermatology, Vol. 177, No. 5, 11.2017, p. e217-e219.

Research output: Contribution to journalLetterResearchpeer-review

TY - JOUR

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T2 - A profile of lipid dysregulation in Harlequin Ichthyosis

AU - Ip, S.C.I

AU - Cottle, D.L.

AU - Jones, L.K.

AU - Weir, J.M.

AU - Kelsell, D.P.

AU - O'Toole, E.A.

AU - Meikle, P. J.

AU - Smyth, I.M.

PY - 2017/11

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N2 - 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.

AB - 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.

U2 - 10.1111/bjd.15642

DO - 10.1111/bjd.15642

M3 - Letter

VL - 177

SP - e217-e219

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 5

ER -