Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
J. Clin. Invest. Masashi Akiyama, et al. 115:1777 doi:10.1172/JCI24834 [Go to this article.]

Figure 5
Extremely thick stratum corneum and severe disruption of the secretion of LGs in the ABCA12-deficient skin of the present series of HI patients. (A) Strikingly thick stratum corneum (SC; double arrow) in the patient's skin. (B) Control epidermis showing normal, stratum corneum (arrow). (C) By electron microscopy, LG secretion was disturbed, and many abnormal immature (lacking proper lamellar structures) LGs (arrows) were observed in the keratinocytes. (D) In control skin, LGs (arrows) were distributed in a gradually increasing pattern toward the plasma membrane. (E) Abnormal HI LGs (arrows) were localized close to the cell membrane, but not secreted. (F) LGs were secreted into the extracellular space (arrows). (G) Patient's epidermis including stratum corneum (arrows) showed diffuse staining for glucosylceramide (green), a lipid component of LGs. (H) Glucosylceramide staining (green) was restricted and intense in the stratum corneum (arrows) of normal skin. Red, nuclear stain. Scale bars: 50 mm (A, B, G, H); 1 mm (C, D); 0.5 mm (E, F).