Br J Dermatol 2017 May 10. Epub 2017 May 10.
Monash Biomedicine Discovery Institute, 23 Innovation Walk, Monash University, Wellington Rd, Clayton, 3800, Victoria, Australia.
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. Read More