A defective ABCA12 results in a reduced lipid content in LB, as well as an abnormal LB morphology, a reduced pool of LB organelles, an impaired secretion into the extracellular space and a compromised barrier function that can be very severe in Harlequin Ichthyosis (Akiyama et al., 2003; Scott et al., 2013). Here, ABCA12 is linked to Harlequin ichthyosis.