Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome) Marianne Demerjian, Debra A. Crumrine,

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Presentation transcript:

Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome) Marianne Demerjian, Debra A. Crumrine, Leonard M. Milstone, Mary L. Williams, Peter M. Elias Journal of Investigative Dermatology Volume 126, Issue 9, Pages 2032-2038 (September 2006) DOI: 10.1038/sj.jid.5700332 Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Lipid micro-inclusions in NLSDI. (a, arrows) Lipid droplets are visualized in polynuclear cells on a blood smear as empty vacuoles. In the epidermis, after oil red O staining, lipid cytoplasmic micro-inclusions are found in basal keratinocytes (arrows; (b) section of the epidermis in frozen sections, with hematoxylin counterstain). Epidermal hyperplasia can be seen in both skin biopsies of patient nos. 1 and 2 on (c and d) toluidine blue-stained sections in comparison to (e) site- and aged-matched control. (SC: stratum corneum; SG: stratum granulosum; SS: stratum spinosum; SB: stratum basal.) Journal of Investigative Dermatology 2006 126, 2032-2038DOI: (10.1038/sj.jid.5700332) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 NLSDI displays abnormalities in barrier homeostasis and SC integrity/cohesion. (a) TEWL rates from patient no. 2 at baseline, before barrier disruption, were up to three-fold higher than seen in aged-matched historical controls (Seidenari and Giusti, 1995) (horizontal dashed line) (mean age 5±2). (b) Barrier recovery after tape stripping in the patient of the new kindred compared to recovery in controls (historical controls in grey boxes). (c) Evaluation of epidermal barrier integrity expressed by TEWL after sequential tape-stripping using D-squames®. Normal values are shown in striped boxes (historical controls from adults). (d) Cohesion: total amount of protein removed per D-squames® (sum of 10 sequential D-squames® shown) on five different body sites (horizontal line: historical controls) (1: back; 2–6: forearms). Journal of Investigative Dermatology 2006 126, 2032-2038DOI: (10.1038/sj.jid.5700332) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Electron micrographs showing the clefts' at the SC/SG interface. (a) White arrows; aged-matched-control is shown in black bordered inset, black arrows. Lipid micro-inclusions (asterisks) appear within the (a–e) lamellar bodies, which are (a and b, black arrows) membrane bound. Bars: 100nm. Journal of Investigative Dermatology 2006 126, 2032-2038DOI: (10.1038/sj.jid.5700332) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Electron micrograph of epidermis after osmium tetroxide post-fixation and Epon–epoxy embedding. Arrows show empty “clefts” at the SC/SG interface and above lamellar material in the SC interstices. Asterisks indicate lipid droplets within the corneocytes. (a and b) Osmium tetroxide post-fixation. Control, normal epidermis: cf. Figure 3a (inset) and Elias and Williams (1985). Bars: 500nm. Journal of Investigative Dermatology 2006 126, 2032-2038DOI: (10.1038/sj.jid.5700332) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 5 Electron micrographs after ruthenium tetroxide post-fixation coupled with lipid-retaining resin-white embedding. (a and b) Amorphous electron-dense material forming the non-lamellar phase in the “clefts” (asterisks) adjacent to normal-appearing lamellae (white arrows). The electron-dense tracer, lanthanum nitrate, is excluded from lamellar domains, but can be seen within adjacent non-lamellar domains in the SC interstices ((c), ruthenium tetroxide post-fixation, Epon embedded). Bars: 100nm. Journal of Investigative Dermatology 2006 126, 2032-2038DOI: (10.1038/sj.jid.5700332) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions