Basis for the permeability barrier abnormality in lamellar ichthyosis

Experimental Dermatology

Volumn 11, Issue 3, 2002, Pages 248-256

  Elias, Peter M ^a   Schmuth, Matthias ^b   Uchida, Yoshikazu ^a   Rice, Robert H ^c   Behne, Martin ^a   Crumrine, Debra ^a   Feingold, Kenneth R ^a   Holleran, Walter M ^a   Pharm, D ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Corneocyte lipid envelope; Cornified envelope; Lamellar ichthyosis; Stratum corneum; Transglutaminase 1

Indexed keywords

LANTHANUM; PROTEIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 1; TRACER; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CELL MEMBRANE PERMEABILITY; CHILD; CLINICAL ARTICLE; COLLOID; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME ACTIVITY; HUMAN; LAMELLAR ICHTHYOSIS; PERMEABILITY BARRIER; SOLUBILITY; STRATUM CORNEUM; WATER LOSS; WATER PERMEABILITY; CELL MEMBRANE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; REFERENCE VALUE; SKIN; ULTRASTRUCTURE;

ADOLESCENT; ADULT; CELL MEMBRANE; CELL MEMBRANE PERMEABILITY; CHILD; CHILD, PRESCHOOL; HUMANS; ICHTHYOSIS, LAMELLAR; REFERENCE VALUES; SKIN;

EID: 0036617684     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2001.110308.x     Document Type: Article

References (45)

1. Nemes Z, Marekov L N, Fésüs L, Steinert P M. A novel function for transglutaminase 1: Attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation. Proc Natl Acad Sci USA 1999: 96: 8402-8407.
2. Wertz P W, Downing D T. Covalently bound omega-hydroxyacylsphingosine in the stratum corneum. Biochim Biophys Acta 1987: 917: 108-111.
3. Swartzendruber D C, Wertz P W, Madison K C, Downing D T. Evidence that the corneocyte has a chemically bound lipid envelope. J Invest Dermatol 1987: 88: 709-713.
4. Wertz P W, Madison K C, Downing D T. Covalently bound lipids of human stratum corneum. J Invest Dermatol 1989: 92: 109-111.
5. Marekov L N, Steinert P M. Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. J Biol Chem 1998: 273: 17763-17770.
6. Rice Rh, Green H. Relation of protein synthesis and transglutaminase activity to formation of the cross-linked envelope during terminal differentiation of the cultured human epidermal keratinocyte. J Cell Biol 1978: 76: 705-711.
7. Eckert R L, Crish J F, Robinson N A. The epidermal keratinocyte as a model for the study of gene regulation and cell differentiation. Physiol Rev 1997: 77: 397-424.
8. Nemes Z, Steinert P M. Bricks and mortar of the epidermal barrier. Exp Mol Med 1999: 31: 5-19.
9. Elias P M, Fartasch M, Crumrine D, et al. Origin of the corneocyte lipid envelope (CLE). J Invest Dermatol 2000: 115: 765-769.
10. Hohl D, Huber M, Frenk E. Analysis of the cornified cell envelope in lamellar ichthyosis [see comments]. Arch Dermatol 1993: 129: 618-624.
11. Ishida-Yamamoto A, Iizuka H. Structural organization of cornified cell envelopes and alterations in inherited skin disorders. Exp Dermatol 1998: 7: 1-10.
12. Russell L J, DiGiovanna J J, Rogers G R, et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995: 9: 279-283.
13. Huber M, Rettler I, Bernasconi K, et al. Mutations of keratinocyte translutaminase in lamellar ichthyosis [see comments]. Science 1995: 267: 525-528.
14. Williams M L, Elias P M. Ichthyosis: Where we have been; Disorders of cornification: Where we are going. Curr Probl Dermatol 2000: 12: 170-176.
15. Matsuki M, Yamashita F, Ishia-Yamamoto A, et al. Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc Natl Acad Sci USA 1998: 95: 1044-1049.
16. Jeon S, Djian P, Green H. Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: Absence of envelopes as a simple diagnostic test for lamellar ichthyosis. Proc Natl Acad Sci USA 1998: 95: 687-690.
17. Hazell M, Marks R. Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 1985: 121: 489-493.
18. Williams M L, Elias P M. Heterogeneity in autosomal recessive ichtohyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosis-form erythroderma. Arch Dermatol 1985: 121: 477-488.
19. Levrijsen A P, Oestmann E, Hermans J, Boddé H E, Vermeer B J, Ponec M. Barrier function parameter in various keratinization disorders: Transepidermal water loss and vascular response to hexyl nicotinate. Br J Dermatol 1993: 129: 547-553.
20. Lavrijsen A P, Bouwstra J A, Gooris G S, Weerheim A, Boddé H E, Ponec M. Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis. J Invest Dermatol 1995: 105: 619-624.
21. Choate K A, Medalie D A, Morgan J R, Khavari P A. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nat Med 1996: 2: 1263-1267.
22. Ghadially R, Williams M. L, Hou S Y, Elias P M. Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 1992: 99: 755-763.
23. Paige D G, Morse-Fisher N, Harper J I. Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Br J Dermatol 1994: 131: 23-27.
24. Raghunath M, Hennies H C, Velten F, et al. A novel in situ method for the detection of deficient transglutaminase activity in the skin. Arch Dermatol Res 1998; 290: 621-627.
25. Elias P M, Goerke J, Friend D S. Mammalian epidermal barrier layer lipids: Composition and influence on structure. J Invest Dermatol 1977: 69: 535-546.
26. Madison K C, Swartzendruber D C, Wertz P W, Downing D T. Presence of intact intercellular lipid lamellae in the upper layers of the stratum corneum. J Invest Dermatol 1987: 88: 714-718.
27. Hou S Y, Mitra A K, White Sh, Menon G K, Ghadially R, Elias P M. Membrane structures in normal and essential fatty acid-deficient stratum corneum: Characterization by ruthenium tetroxide staining and x-ray diffraction. J Invest Dermatol 1991: 96: 215-223.
28. Elias P M, Fritsch P O, Lampe M, et al. Retinoid effects on epidermal structure, differentiation, and permeability. Laboratory Invest 1981: 44: 531-540.
29. Elias P M, Brown B E. The mammalian cutaneous permeability barrier: Defective barrier function in essential fatty acid deficiency correlates with abnormal intercellular lipid deposition. Laboratory Invest 1978: 39: 574-583.
30. Bligh E G, Dyer W J. A rapid method of total lipid extraction and purification. Can J Biochem Physiol 1959: 37: 911-917.
31. Holleran W M, Man M Q, Gao W N, Menon G K, Elias P M, Feingold K R. Sphingolipids are required for mammalian epidermal barrier function. Inhibition of sphingolipid synthesis delays barrier recovery after acute pertubation. J Clin Invest 1991: 88: 1338-1345.
32. Behne M, Uchida Y, Seki T, De Montellano P O, Elias P M, Holleran W M. Omega-hydroxyceramides are required for corneocyte lipid envelope (CLE) formation and normal epidermal permeability barrier function. J Invest Dermatol 2000: 114: 185-192.
33. Elias P M. Epidermal lipids, membranes, and keratinization. Int J Dermatol 1981: 20: 1-19.
34. Williams M L. Lipids in normal and pathological desquamation. Adv Lipid Res 1991: 24: 211-262.
35. Elias P M, McNutt N S, Friend D S. Membrane alterations during cornification of mammalian squamous epithelia a freeze-fracture, tracer, and thin-section study. Anat Rec 1977: 189: 577-594.
36. Fartasch M. Epidermal barrier in disorders of the skin. Microsc Res Tech 1997: 38: 361-372.
37. Green H. The keratinocyte as differentiated cell type. Harvey Lectures 1980: 74: 101-139.
38. Robson K J, Stewart M E, Michelsen S, Lazo N D, Downing D T. 6-Hydroxy-4-sphingenine in human epidermal ceramides. J Lipid Res 1994: 35: 2060-2068.
39. Uchida Y, Hara M, Nishio H, et al. Epidermal sphingomyelins are precursors for selected stratum corneum ceramides. J Lipid Res 2000: 41: 2071-2082.
40. Elias P M, Williams M L. Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. Arch Dermatol 1985: 121: 1000-1008.
41. Williams M L, Elias P M. Absence of vascuolization of upper epidermal cells in nonbullous congenital ichthyosiform erythroderma [letter]. J Am Acad Dermatol 1985: 12: 126-127.
42. Pilgram G S K, Vissers D C J, Van Der Meulen H et al. Aberrant lipid organization in stratum corneum of patients with atopic dermatitis and lamellar ichthyosis. J Invest Dermatol 2001: 117: 710-717.
43. Mao-Qiang M, Feingold K R, Elias P M. Exogenous lipids influence permeability barrier recovery in acetone treated murine skin. Arch Dermatol 1993: 129: 728-738.
44. Schmuth M, Yosipovitch G, Williams M L, et al. Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. J Invest Dermatol 2001: 117: 837-847.
45. Takizawa T, Takizawa T, Matsuki M, Kuramoto N, Yashiro T, Ookawara S, Arai S, Hayashi S, Yamanishi K. Structural abnormalities of intercellular lipid lamellae in transglutaminase 1 knockout mouse epidermis. Mol Biol Cell 2000: 115: 228A.