Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism

Journal of Lipid Research

Volumn 49, Issue 4, 2008, Pages 697-714

  Elias, Peter M ^a,b   Williams, Mary L ^b   Holleran, Walter M ^a,b   Jiang, Yan J ^a,b   Schmuth, Matthias ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Arachidonate lipoxygenase barrier function; ATP binding cassette transporter 12; Epidermal lipids; Harlequin ichthyosis; Neutral lipid storage disease; Recessive x linked ichthyosis; Stratum corneum; Transepidermal water loss

Indexed keywords

CHOLESTEROL SULFATE; ENZYME; GLUCOSYLCERAMIDE; STERYL SULFATASE; TRIACYLGLYCEROL;

ANGIOOSTEOHYPERTROPHY SYNDROME; CALCIFYING CHONDRODYSTROPHY; CEDNICK SYNDROME; CELL DIFFERENTIATION; CEREBRAL DYSGENESIS NEUROPATHY ICHTHYOSIS PALMOPLANTAR KERATODERMA SYNDROME; CHANARIN DORFMAN SYNDROME; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENZYME DEFICIENCY; EPIDERMIS HYPERPLASIA; EXTRACELLULAR MATRIX; FATTY ACID METABOLISM; GAUCHER DISEASE; HUMAN; ICHTHYOSIS; LAMELLAR BODY; LAMELLAR ICHTHYOSIS; LIPID PEROXIDATION; LIPIDOSIS; NIEMANN PICK DISEASE; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PERMEABILITY BARRIER; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; REVIEW; SJOEGREN LARSSON SYNDROME; SKIN EXFOLIATION; SKIN INFLAMMATION; SKIN PERMEABILITY; STEROL SYNTHESIS; STRATUM CORNEUM; SYNDROME CHILDS; X LINKED ICHTHYOSIS; ANIMAL; DISEASE PREDISPOSITION; GENETICS; LIPID METABOLISM; METABOLISM; PERMEABILITY; SIGNAL TRANSDUCTION;

ANIMALS; DISEASE SUSCEPTIBILITY; HUMANS; ICHTHYOSIS; LIPID METABOLISM; PERMEABILITY; SIGNAL TRANSDUCTION;

EID: 44949151890     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.R800002-JLR200     Document Type: Review

References (230)

1. Feingold, K. R. 1991. The regulation and role of epidermal lipid synthesis. Adv Lipid Res. 24: 57-82.
2. Elias, P. M., D. Crumrine, U. Rassner, J. P. Hachem, G. K Menon, W. Man, M. H. Choy, L. Leypoldt, K. R. Feingold, and M. L. Williams. 2004. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J. Invest. Dermatol. 122: 314-319.
3. Holleran, W. M., S. G. Ziegler, O. Goker-Alpan, M. J. Eblan, P. M. Elias, R. Schiffmann, and E. Sidransky. 2006. Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. Clin. Genet. 69: 355-357.
4. Schmuth, M., M. Q. Man, F. Weber, W. Gao, K. R. Feingold, P. Fritsch, P. M. Elias, and W. M. Holleran. 2000. Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis. J. Invest. Dermatol. 115: 459-466.
5. Williams, M. L. 1992. Ichthyosis: mechanisms of disease. Pediatr. Dermatol. 9: 365-368.
6. Williams, M. L. 1992. Epidermal lipids and scaling diseases of the skin. Semin. Dermatol. 11: 169-175.
7. DiGiovanna, J. J., and L. Robinson-Bostom. 2003. Ichthyosis: etiology, diagnosis, and management. Am. J. Clin. Dermatol. 4: 81-95.
8. Oji, V., and H. Traupe. 2006. Ichthyoses: differential diagnosis and molecular genetics. Eur. J. Dermatol. 16: 349-359.
9. Williams, M. L., and P. M. Elias. 1993. From basketweave to barrier. Unifying concepts for the pathogenesis of the disorders of cornification. Arch. Dermatol. 129: 626-629.
10. Bouwstra, J. A., and M. Ponec. 2006. The skin barrier in healthy and diseased state. Biochim. Biophys. Acta. 1758: 2080-2095.
11. Williams, M. L., and P. M. Elias. 1987. The extracellular matrix of stratum corneum: role of lipids in normal and pathological function. Crit. Rev. Ther. Drug Carrier Syst. 3: 95-122.
12. Williams, M. L. 1991. Lipids in normal and pathological desquamation. Adv. Lipid Res. 24: 211-262.
13. Schmuth, M., R. Gruber, P. M. Elias, and M. L. Williams. 2007. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv. Dermatol. 23: 231-256.
14. Bouwstra, J. A., and M. Ponec. 2006. The skin barrier in healthy and diseased state. Biochim Biophys Acta. 1758: 2080-2095.
15. Elias, P. M. 2005. Stratum corneum defensive functions: an integrated view. J. Invest. Dermatol. 125: 183-200.
16. Elias, P. M., and K. R. Feingold. 2006. Permeability barrier homeostasis. In Skin Barrier. P. M. Elias and K. R. Feingold, editors. Taylor & Francis, New York. 337-362.
17. Akiyama, M. 2006. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch. Dermatol. 142: 914-918.
18. Schmuth,M.,J.W.Fluhr,D.C.Crumrine,Y.Uchida,J.P. Hachem,M. Behne,D.G.Moskowitz,A.M. Christiano,K R. Feingold, and P. M. Elias. 2004. Structural and functional consequences of loricrin mutations in human loricrin kerato- derma (Vohwinkel syndrome with ichthyosis). J. Invest. Dermatol. 122: 909-922.
19. 19.Elias,P.M.,M.Schmuth,Y.Uchida,R.H.Rice,M.Behne, D. Crumrine, K. R. Feingold, and W. M. Holleran. 2002. Basis for the permeability barrier abnormality in lamellar ichthyosis. Exp. Dermatol. 11: 248-256.
20. Schmuth,M.,G.Yosipovitch,M.L.Williams,F.Weber,H. Hintner,S.Ortiz-Urda,K. Rappersberger,D.Crumrine,K.R. Feingold, and P. M. Elias. 2001. Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. J. Invest. Dermatol. 117: 837-847.
21. Elias, P. M., and K. R. Feingold. 2001. Does the tail wag the dog? Role of the barrier in the pathogenesis of inflammatory dermatoses and therapeutic implications. Arch. Dermatol. 137: 1079-1081.
22. Elias, P. M. 1996. Stratum corneum architecture, metabolic activity and interactivity with subjacent cell layers. Exp. Dermatol. 5: 191-201.
23. Elias, P. M., L. C. Wood, and K. R. Feingold. 1999. Epidermal pathogenesis of inflammatory dermatoses. Am. J. Contact Dermat. 10: 119-126.
24. Pujol, R. M., M. Gilaberte, A. Toll, L. Florensa, J. Lloreta, M. A. Gonzalez-Ensenat, J. Fischer, and A. Azon. 2005. Erythrokerato- derma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. Br. J. Dermatol. 153: 838-841.
25. Lefevre, C., F. Jobard, F. Caux, B. Bouadjar, A. Karaduman,R. Heilig, H. Lakhdar, A. Wollenberg, J. L. Verret, J. Weissenbach, et al. 2001. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am.J.Hum.Genet.69: 1002-1012.
26. Akiyama, M., D. Sawamura, Y. Nomura, M. Sugawara, and H. Shimizu. 2003. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman- Chanarin syndrome. J. Invest. Dermatol. 121: 1029-1034.
27. Ben Selma, Z., S. Yilmaz, P. O. Schischmanoff, A. Blom, C. Ozogul, L. Laroche, and F. Caux. 2007. A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome. J. Invest. Dermatol. 127: 2273-2276.
28. Fischer, J., C. Lefevre, E. Morava, J. M. Mussini, P. Laforet, A. Negre- Salvayre,M.Lathrop,andR. Salvayre.2007. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat. Genet. 39: 28-30.
29. Lass, A., R. Zimmermann, G. Haemmerle, M. Riederer, G. Schoiswohl, M. Schweiger, P. Kienesberger, J. G. Strauss, G. Gorkiewicz, and R. Zechner. 2006. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman syndrome. Cell Metab. 3: 309-319.
30. Williams, M. L., R. A. Coleman, D. Placezk, and C. Grunfeld. 1991. Neutral lipid storage disease: a possible functional defect in phospholipid-linked triacylglycerol metabolism. Biochim. Biophys. Acta. 1096: 162-169.
31. Igal, R. A., and R. A. Coleman. 1998. Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. J. Lipid Res. 39: 31-43.
32. Mao-Qiang, M., K. R. Feingold, M. Jain, and P. M. Elias. 1995. Extracellular processing of phospholipids is required for permeability barrier homeostasis. J. Lipid Res. 36: 1925-1935.
33. Elias, P. M., and M. L. Williams. 1985. Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. Arch. Dermatol. 121: 1000-1008.
34. Williams, M. L., T. K. Koch, J. J. McDonnell, P. Frost, L. B. Epstein, W. S. Grizzard, C. H. Epstein, J. M. Opitz, and J. F. Reynolds. 1985. Ichthyosis and neutral-lipid storage disease. Am. J. Med. Genet. 20: 711-726.
35. Demerjian, M., D. A. Crumrine, L. M. Milstone, M. L. Williams, and P. M. Elias. 2006. Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). J. Invest. Dermatol. 126: 2032-2038.
36. Solomon, C., L. Bernier, L. Germain, R. Dufour, and J. Davignon. 2006. Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. Arch. Dermatol. 142: 402-403.
37. Zaynoun, S. T., B. G. Aftimos, K. K. Tenekjian, N. Bahuth, and A. K. Kurban. 1983. Extensive pityriasis alba: a histological histochemical and ultrastructural study. Br. J. Dermatol. 108: 83-90.
38. Johnson, B. L., E. M. Kramer, and R. M. Lavker. 1987. The keratotic tumors of Cowden's disease: an electron microscopic study. J. Cutan. Pathol. 14: 291-298.
39. Kanerva, L. 1990. Electron microscopy of the effects of dithranol on healthy and on psoriatic skin. Am. J. Dermatopathol. 12: 51-62.
40. el-Shoura, S. M., and T. M. Tallab. 1997. Richner-Hanhart's syndrome: new ultrastructural observations on skin lesions of two cases. Ultrastruct. Pathol. 21: 51-56.
41. Monteiro-Riviere, N. A., A. O. Inman, and J. E. Riviere. 2004. Skin toxicity of jet fuels: ultrastructural studies and the effects of substance P. Toxicol. Appl. Pharmacol. 195: 339-347.
42. Menon, G. K., R. Ghadially, M. L. Williams, and P. M. Elias. 1992. Lamellar bodies as delivery systems of hydrolytic enzymes: implications for normal and abnormal desquamation. Br. J. Dermatol. 126: 337-345.
43. Elias, P. M., C. Cullander, T. Mauro, U. Rassner, L. Komuves, B. E. Brown, and G. K. Menon. 1998. The secretory granular cell: the outermost granular cell as a specialized secretory cell. J. Investig. Dermatol. Symp. Proc. 3: 87-100.
44. Rassner, U., K. R. Feingold, D. A. Crumrine, and P. M. Elias. 1999. Coordinate assembly of lipids and enzyme proteins into epidermal lamellar bodies. Tissue Cell. 31: 489-498.
45. Yamaguchi, T., N. Omatsu, S. Matsushita, and T. Osumi. 2004. CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. J. Biol. Chem. 279: 30490-30497.
46. Lavrijsen, A. P., J. A. Bouwstra, G. S. Gooris, A. Weerheim, H. E. Bodde, and M. Ponec. 1995. Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis. J. Invest. Dermatol. 105: 619-624.
47. Moskowitz, D. G., A. J. Fowler, M. B. Heyman, S. P. Cohen, D. Crumrine, P. M. Elias, and M. L. Williams. 2004. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J. Pediatr. 145: 82-92.
48. Elias, P. M., and G. K. Menon. 1991. Structural and lipid biochemical correlates of the epidermal permeability barrier. Adv. Lipid Res. 24: 1-26.
49. Swartzendruber, D. C., I. H. Burnett, P. W. Wertz, K. C. Madison, and C. A. Squier. 1995. Osmium tetroxide and ruthenium tetroxide are complementary reagents for the preparation of epidermal samples for transmission electron microscopy. J. Invest. Dermatol. 104: 417-420.
50. Bangham, A. D. 1972. Lipid bilayers and biomembranes. Annu. Rev. Biochem. 41: 753-776.
51. Rehfeld, S. J., M. L. Williams, and P. M. Elias. 1986. Interactions of cholesterol and cholesterol sulfate with free fatty acids: possible relevance for the pathogenesis of recessive X-linked ichthyosis. Arch. Dermatol. Res. 278: 259-263.
52. Rehfeld, S. J., W. Z. Plachy, M. L. Williams, and P. M. Elias. 1988. Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum corneum: molecular basis for normal cohesion and abnormal desquamation in recessive X-linked ichthyosis. J. Invest. Dermatol. 91: 499-505.
53. Swanbeck, G. 1981. The ichthyosis. Acta Derm. Venereol. Suppl. (Stockh.). 95: 88-90.
54. Williams, M. L., and P. M. Elias. 1985. Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch. Dermatol. 121: 477-488.
55. Arnold, M. L., I. Anton-Lamprecht, B. Melz-Rothfuss, and W. Hartschuh. 1988. Ichthyosis congenita type III. Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group. Arch. Dermatol. Res. 280: 268-278.
56. Ghadially,R.,M.L.Williams,S.Y.Hou, and P.M. Elias. 1992. Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J. Invest. Dermatol. 99: 755-763.
57. Russell,L.J.,J.J.DiGiovanna,G.R.Rogers,P.M.Steinert,N. Hashem, J. G. Compton, and S. J. Bale. 1995. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat. Genet. 9: 279-283.
58. Huber, M., I. Rettler, K. Bernasconi, E. Frenk, S. P. Lavrijsen, M. Ponec, A. Bon, S. Lautenschlager, D. F. Schorderet, and D. Hohl. 1995. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 267: 525-528.
59. Hennies, H. C., W. Kuster, V. Wiebe, A. Krebsova, and A. Reis. 1998. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am. J. Hum. Genet. 62: 1052-1061.
60. Jobard, F., C. Lefevre, A. Karaduman, C. Blanchet-Bardon, S. Emre, J. Weissenbach, M. Ozguc, M. Lathrop, J. F. Prud'homme, and J. Fischer. 2002. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum. Mol. Genet. 11: 107-113.
61. Akiyama, M., D. Sawamura, and H. Shimizu. 2003. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin. Exp. Dermatol. 28: 235-240.
62. Vahlquist, A., A. Ganemo, M. Pigg, M. Virtanen, and P. Westermark. 2003. The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. Acta Derm. Venereol. Suppl. (Stockh.). 83: 34-47.
63. Eckl, K. M., P. Krieg, W. Kuster, H. Traupe, F. Andre, N. Wittstruck, G. Furstenberger, and H. C. Hennies. 2005. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum. Mutat. 26: 351-361.
64. Fischer, J., A. Faure, B. Bouadjar, C. Blanchet-Bardon, A. Karaduman, I. Thomas,S. Emre,S.Cure,M. Ozguc,J.Weissenbach, etal. 2000. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am.J.Hum.Genet.66: 904-913.
65. Richard, G. 2004. Molecular genetics of the ichthyoses. Am. J. Med. Genet. C Semin. Med. Genet. 131C: 32-44.
66. Anton-Lamprecht, I. 1994. Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J. Invest. Dermatol. 103 (Suppl.): 6-12.
67. Ganemo, A., M. Pigg, M. Virtanen, T. Kukk, H. Raudsepp, I. Rossman-Ringdahl, P. Westermark, K. M. Niemi, N. Dahl, and A. Vahlquist. 2003. Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. Acta Derm. Venereol. 83: 24-30.
68. Lawlor, F. 1988. Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. Pediatrics. 82: 870-873.
69. Lefevre, C., B. Bouadjar, A. Karaduman, F. Jobard, S. Saker, M. Ozguc, M. Lathrop, J. F. Prud'homme, and J. Fischer. 2004. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum. Mol. Genet. 13: 2473-2482.
70. Lesueur, F., B. Bouadjar, C. Lefevre, F. Jobard, S. Audebert, H. Lakhdar, L. Martin, G. Tadini, A. Karaduman, S. Emre, et al. 2007. Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J. Invest. Dermatol. 127: 829-834.
71. Dahlqvist, J., J. Klar, I. Hausser, I. Anton-Lamprecht, M. H. Pigg, T. Gedde-Dahl, Jr., A. Ganemo, A. Vahlquist, and N. Dahl. 2007. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J. Med. Genet. 44: 615-620.
72. Anton, R., and L. Vila. 2000. Stereoselective biosynthesis of hepoxilin B3 in human epidermis. J. Invest. Dermatol. 114: 554-559.
73. Anton, R., M. Camacho, L. Puig, and L. Vila. 2002. Hepoxilin B3 and its enzymatically formed derivative trioxilin B3 are incorporated into phospholipids in psoriatic lesions. J. Invest. Dermatol. 118: 139-146.
74. Krieg, P., F. Marks, and G. Furstenberger. 2001. A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression. Genomics. 73: 323-330.
75. Yu, Z., C. Schneider, W. E. Boeglin, L. J. Marnett, and A. R. Brash. 2003. The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. Proc. Natl. Acad. Sci. USA. 100: 9162-9167.
76. Yu, Z., C. Schneider, W. E. Boeglin, and A. R. Brash. 2005. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. Biochim. Biophys. Acta. 1686: 238-247.
77. Epp, N., G. Furstenberger, K. Muller, S. de Juanes, M. Leitges, I. Hausser, F. Thieme, G. Liebisch, G. Schmitz, and P. Krieg. 2007. 12R-Lipoxygenase deficiency disrupts epidermal barrier function. J. Cell Biol. 177: 173-182.
78. Moran, J. L., H. Qiu, A. Turbe-Doan, Y. Yun, W. E. Boeglin, A. R. Brash, and D. R. Beier. 2007. A mouse mutation in the 12R- lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. J. Invest. Dermatol. 127: 1893-1897.
79. Lefevre, C., B. Bouadjar, V. Ferrand, G. Tadini, A. Megarbane, M. Lathrop, J. F. Prud'homme, and J. Fischer. 2006. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum. Mol. Genet. 15: 767-776.
80. Elias, P. M., and B. E. Brown. 1978. The mammalian cutaneous permeability barrier: defective barrier function in essential fatty acid deficiency correlates with abnormal intercellular lipid deposition. Lab. Invest. 39: 574-583.
81. Elias, P. M., B. E. Brown, and V. A. Ziboh. 1980. The permeability barrier in essential fatty acid deficiency: evidence for a direct role for linoleic acid in barrier function. J. Invest. Dermatol. 74: 230-233.
82. Nugteren, D. H., E. Christ-Hazelhof, A. van der Beek, and U. M. Houtsmuller. 1985. Metabolism of linoleic acid and other essential fatty acids in the epidermis of the rat. Biochim. Biophys. Acta. 834: 429-436.
83. Hou, S. Y., A. K. Mitra, S. H. White, G. K. Menon, R. Ghadially, and P. M. Elias. 1991. Membrane structures in normal and essential fatty acid-deficient stratum corneum: characterization by ruthenium tetroxide staining and x-ray diffraction. J. Invest. Dermatol. 96: 215-223.
84. Yu, Z., C. Schneider, W. E. Boeglin, and A. R. Brash. 2007. Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha. Lipids. 42: 491-497.
85. Schmuth, M., K. Schoonjans, Q. C. Yu, J. W. Fluhr, D. Crumrine, J.P. Hachem, P. Lau, J. Auwerx, P.M. Elias, and K. R. Feingold. 2002. Role of peroxisome proliferator-activated receptor alpha in epidermal development in utero. J. Invest. Dermatol. 119: 1298-1303.
86. 86.Dubrac,S.,P.Stoitzner,D.Pirkebner,A.Elentner,K. Schoonjans,J.Auwerx,S. Saeland,P.Hengster,P.Fritsch,N. Romani, et al. 2007. Peroxisome proliferator-activated receptor- alpha activation inhibits Langerhans cell function. J. Immunol. 178: 4362-4372.
87. Cowart, L. A., S. Wei, M. H. Hsu, E. F. Johnson, M. U. Krishna, J. R. Falck, and J. H. Capdevila. 2002. The CYP4A isoforms hydroxylate epoxyeicosatrienoic acids to form high affinity peroxisome proliferator- activated receptor ligands. J. Biol. Chem. 277: 35105-35112.
88. Rivier, M., I. Safonova, P. Lebrun, C. E. Griffiths, G. Ailhaud, and S. Michel. 1998. Differential expression of peroxisome proliferator- activated receptor subtypes during the differentiation of human keratinocytes. J. Invest. Dermatol. 111: 1116-1121.
89. Reynaud, D., P. M. Demin, M. Sutherland, S. Nigam, and C. R. Pace-Asciak. 1999. Hepoxilin signaling in intact human neutrophils: biphasic elevation of intracellular calcium by unesterified hepoxilin A3. FEBS Lett. 446: 236-238.
90. Rizzo, W. B., and D. A. Craft. 2000. Sjogren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma. J. Lipid Res. 41: 1077-1081.
91. Rizzo, W. B. 2007. Sjogren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol. Genet. Metab. 90: 1-9.
92. Gordon, N. 2007. Sjogren-Larsson syndrome. Dev. Med. Child Neurol. 49: 152-154.
93. Willemsen, M. A., L. IJlst, P. M. Steijlen, J. J. Rotteveel, J. G. de Jong, P. H. van Domburg, E. Mayatepek, F. J. Gabreels and R. J. Wanders. 2001. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome. Brain. 124: 1426-1437.
94. Wedi, B., and A. Kapp. 2001. Pathophysiological role of leukotrienes in dermatological diseases: potential therapeutic implications. BioDrugs. 15: 729-743.
95. Shibaki, A., M. Akiyama, and H. Shimizu. 2004. Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjogren-Larsson syndrome. J. Invest. Dermatol. 123: 1197-1199.
96. + oxidoreductase activity. Arch. Dermatol. 126: 1485-1490.
97. van den Brink, D. M., and R. J. Wanders. 2006. Phytanic acid: production from phytol, its breakdown and role in human disease. Cell. Mol. LifeSci. 63: 1752-1765.
98. 98.Jansen,G.A.,S.Ferdinandusse,E.M.Hogenhout,N.M. Verhoeven, C. Jakobs, and R. J. Wanders. 1999. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. Adv. Exp. Med. Biol. 466: 371-376.
99. van den Brink, D. M., P. Brites, J. Haasjes, A. S. Wierzbicki, J. Mitchell, M. Lambert-Hamill, J. de Belleroche, G. A. Jansen, H. R. Waterham, and R. J. Wanders. 2003. Identification of PEX7 as the second gene involved in Refsum disease. Am.J.Hum. Genet. 72: 471-477.
100. Pahan, K., M. Khan, and I. Singh. 1996. Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. J. Lipid Res. 37: 1137-1143.
101. Verhoeven, N. M., C. Jakobs, G. Carney, M. P. Somers, R. J. Wanders, and W. B. Rizzo. 1998. Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. FEBS Lett. 429: 225-228.
102. Derry, J. M., E. Gormally, G. D. Means, W. Zhao, A. Meindl, R. I. Kelley, Y. Boyd, and G. E. Herman. 1999. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat. Genet. 22: 286-290.
103. Braverman, N., P. Lin, F. F. Moebius, C. Obie, A. Moser, H. Glossmann, W. R. Wilcox, D. L. Rimoin, M. Smith, L. Kratz, et al. 1999. Mutations in the gene encoding 3 beta-hydroxysteroid- delta 8,delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat. Genet. 22: 291-294.
104. Grange, D. K., L. E. Kratz, N. E. Braverman, and R. I. Kelley. 2000. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid- delta8,delta7-isomerase. Am. J. Med. Genet. 90: 328-335.
105. Konig, A., R. Happle, D. Bornholdt, H. Engel, and K. H. Grzeschik. 2000. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am. J. Med. Genet. 90: 339-346.
106. Kelley, R. I., and G. E. Herman. 2001. Inborn errors of sterol biosynthesis. Annu. Rev. Genomics Hum. Genet. 2: 299-341.
107. Happle, R. 1985. Lyonization and the lines of Blaschko. Hum. Genet. 70: 200-206.
108. Happle, R. 1979. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum. Genet. 53: 65-73.
109. Ikegawa, S., H. Ohashi, T. Ogata, A. Honda, M. Tsukahara, T. Kubo, M. Kimizuka, M. Shimode, T. Hasegawa, G. Nishimura, et al. 2000. Novel and recurrent EBP mutations in X-linked dominant chondro- dysplasia punctata. Am. J. Med. Genet. 94: 300-305.
110. Steijlen, P. M., M. van Geel, M. Vreeburg, D. Marcus-Soekarman, L. J. Spaapen, F. C. Castelijns, M. Willemsen, and M. A. van Steensel. 2007. Novel EBP gene mutations in Conradi-Hunermann- Happle syndrome. Br.J.Dermatol.157: 1225-1229.
111. Feldmeyer, L., B. Mevorah, K. H. Grzeschik, M. Huber, and D. Hohl. 2006. Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). Br. J. Dermatol. 154: 766-769.
112. Herman, G. E., R. I. Kelley, V. Pureza, D. Smith, K. Kopacz, J. Pitt, R. Sutphen, L. J. Sheffield, and A. B. Metzenberg. 2002. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genet. Med. 4: 434-438.
113. Emami, S., K. P. Hanley, N. B. Esterly, N. Daniallinia, and M. L. Williams. 1994. X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse. Arch. Dermatol. 130: 325-336.
114. Cooper, M. K., C. A. Wassif, P. A. Krakowiak, J. Taipale, R. Gong, R. I. Kelley, F. D. Porter, and P. A. Beachy. 2003. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat. Genet. 33: 508-513.
115. Elias, P., M. L. Williams, M. Maloney, P. Fritsch, and J-C. Chung. 1986. Applications of the diazacholesterol animal model of ichthyosis. In Skin Models. R. Marks and G. Plewig, editors. Springer, Berlin. 122-135.
116. Elias, P. M., M. A. Lampe, J. C. Chung, and M. L. Williams. 1983. Diazacholesterol-induced ichthyosis in the hairless mouse. I. Morphologic, histochemical, and lipid biochemical characterization of a new animal model. Lab. Invest. 48: 565-577.
117. Clayton, P. T., D. C. Kalter, D. J. Atherton, G. T. Besley, and D. M. Broadhead. 1989. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hunermann syndrome. J. Inherit. Metab. Dis. 12 (Suppl. 2): 358-360.
118. Holmes, R. D., G. N. Wilson, and A. K. Hajra. 1987. Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondro- dysplasia punctata. N. Engl. J. Med. 316: 1608.
119. Emami, S., W. B. Rizzo, K. P. Hanley, J. M. Taylor, M. E. Goldyne, and M. L. Williams. 1992. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. Arch. Dermatol. 128: 1213-1222.
120. Wilson, C. J., and S. Aftimos. 1998. X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? Am. J. Med. Genet. 78: 300-302.
121. Steinberg, S. J., G. Dodt, G. V. Raymond, N. E. Braverman, A. B. Moser, and H. W. Moser. 2006. Peroxisome biogenesis disorders. Biochim. Biophys. Acta. 1763: 1733-1748.
122. Koppe, G., A. Marinkovic-Ilsen, Y. Rijken, W. P. De Groot, and A. C. Jobsis. 1978. X-linked icthyosis. A sulphatase deficiency. Arch. Dis. Child. 53: 803-806.
123. Webster, D., J. T. France, L. J. Shapiro, and R. Weiss. 1978. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet. 1: 70-72.
124. Tiepolo, L., O. Zuffardi, and A. Rodewald. 1977. Nullisomy for the distal portion of Xp in a male child with a X/Ytranslocation. Hum. Genet. 39: 277-281.
125. Mohandas, T., L. J. Shapiro, R. S. Sparkes, and M. C. Sparkes. 1979. Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc. Natl. Acad. Sci. USA. 76: 5779-5783.
126. Li, X. M., P. Yen, T. Mohandas, and L. J. Shapiro. 1990. Along range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus. Nucleic Acids Res. 18: 2783-2788.
127. Shapiro, L. J. 1985. Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. Adv. Hum. Genet. 14: 331-381, 388-399.
128. Tiepolo, L., O. Zuffardi, M. Fraccaro, D. di Natale, L. Gargantini, C. R. Muller, and H. H. Ropers. 1980. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum. Genet. 54: 205-206.
129. Ballabio, A., G. Parenti, R. Carrozzo, G. Sebastio, G. Andria, V. Buckle, N. Fraser, I. Craig, M. Rocchi, G. Romeo, et al. 1987. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc. Natl. Acad. Sci. USA. 84: 4519-4523.
130. Bonifas, J. M., B.J. Morley, R. E. Oakey, Y. W. Kan, and E. H. Epstein, Jr. 1987. Cloning of a cDNAfor steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc. Natl. Acad. Sci. USA. 84: 9248-9251.
131. Conary, J. T., G. Lorkowski, B. Schmidt, R. Pohlmann, G. Nagel, H. E. Meyer, C. Krentler, J. Cully, A. Hasilik, and K. von Figura. 1987. Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase. Biochem. Biophys. Res. Commun. 144: 1010-1017.
132. Gillard, E. F., N. A. Affara, J. R. Yates, D. R. Goudie, J. Lambert, D. A. Aitken, and M. A. Ferguson-Smith. 1987. Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res. 15: 3977-3985.
133. Shapiro, L. J., P. Yen, D. Pomerantz, E. Martin, L. Rolewic, and T. Mohandas. 1989. Molecular studies of deletions at the human steroid sulfatase locus. Proc. Natl. Acad. Sci. USA. 86: 8477-8481.
134. Schmickel, R. D. 1986. Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr. 109: 231-241.
135. Schnur, R. E., B. J. Trask, G. van den Engh, H. H. Punnett, M. Kistenmacher, M. A. Tomeo, R. E. Naids, and R. L. Nussbaum. 1989. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am. J. Hum. Genet. 45: 706-720.
136. de Vries, B., B. Eussen, O. van Diggelen, A. van der Heide, W. Deelen, L. Govaerts, D. Lindhout, C. Wouters, and J. Van Hemel. 1999. Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14). Am. J. Med. Genet. A. 87: 189-194.
137. Willemsen, R., M. Kroos, A. T. Hoogeveen, J. M. van Dongen, G. Parenti, C. M. van der Loos, and A. J. Reuser. 1988. Ultra-structural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study ith lysosomal enzymes and the mannose 6-phosphate receptor. Histochem. J. 20: 41-51.
138. Dibbelt, L., V. Herzog, and E. Kuss. 1989. Human placental sterylsulfatase: immunocytochemical and biochemical localization. Biol. Chem. HoppeSeyler. 370: 1093-1102.
139. Kubilus, J., A. J. Tarascio, and H. P. Baden. 1979. Steroid-sulfatase deficiency in sex-linked ichthyosis. Am. J. Hum. Genet. 31: 50-53.
140. Epstein, E. H., Jr., R. M. Krauss, and C. H. Shackleton. 1981. X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science. 214: 659-660.
141. Elias, P. M., M. L. Williams, M. E. Maloney, J. A. Bonifas, B. E. Brown, S. Grayson, and E. H. J. Epstein. 1984. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. J. Clin. Invest. 74: 1414-1421.
142. 3H- dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency. J. Inherit. Metab. Dis. 11: 403-415.
143. Ibsen, H. H., F. Brandrup, and B. Secher. 1984. Topical cholesterol treatment of recessive X-linked ichthyosis. Lancet. 2: 645.
144. Williams, M. L., and P. M. Elias. 1981. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive X-linked ichthyosis. J. Clin. Invest. 68: 1404-1410.
145. Long, S. A., P. W. Wertz, J. S. Strauss, and D. T. Downing. 1985. Human stratum corneum polar lipids and desquamation. Arch. Dermatol. Res. 277: 284-287.
146. Ranasinghe, A. W., P. W. Wertz, D. T. Downing, and I. C. Mackenzie. 1986. Lipid composition of cohesive and desquamated corneocytes from mouse ear skin. J. Invest. Dermatol. 86: 187-190.
147. Grayson, S., A. G. Johnson-Winegar, B. U. Wintroub, R. R. Isseroff, E. H. Epstein, Jr., and P. M. Elias. 1985. Lamellar body-enriched fractions from neonatal mice: preparative techniques and partial characterization. J. Invest. Dermatol. 85: 289-294.
148. Ponec, M., and M. L. Williams. 1986. Cholesterol sulfate uptake and outflux in cultured human keratinocytes. Arch. Dermatol. Res. 279: 32-36.
149. Epstein, E. H., Williams, M. L., and Elias, P. M. 1984. The epidermal cholesterol sulfate cycle. JAm Acad Dermatol. 10: 866-868.
150. Rearick, J. I., and A. M. Jetten. 1986. Accumulation of cholesterol 3-sulfate during in vitro squamous differentiation of rabbit tra- cheal epithelial cells and its regulation by retinoids. J. Biol. Chem. 261: 13898-13904.
151. Rearick, J. I., P. W. Albro, and A. M. Jetten. 1987. Increase in cholesterol sulfotransferase activity during in vitro squamous differentiation of rabbit tracheal epithelial cells and its inhibition by retinoic acid. J. Biol. Chem. 262: 13069-13074.
152. Rearick, J. I., T. W. Hesterberg, and A. M. Jetten. 1987. Human bronchial epithelial cells synthesize cholesterol sulfate during squamous differentiation in vitro. J. Cell. Physiol. 133: 573-578.
153. Williams, M. L., S. L. Rutherford, M. Ponec, M. Hincenbergs, D. R. Placzek, and P. M. Elias. 1988. Density-dependent variations in the lipid content and metabolism of cultured human kerati- nocytes. J. Invest. Dermatol. 91: 86-91.
154. Jetten, A. M., M. A. George, C. Nervi, L. R. Boone, and J. I. Rearick. 1989. Increased cholesterol sulfate and cholesterol sulfotransferase activity in relation to the multi-step process of differentiation in human epidermal keratinocytes. J. Invest. Dermatol. 92: 203-209.
155. Higashi, Y., H. Fuda, H. Yanai, Y. Lee, T. Fukushige, T. Kanzaki, and C. A. Strott. 2004. Expression of cholesterol sulfotransferase (SULT2B1b) in human skin and primary cultures of human epidermal keratinocytes. J. Invest. Dermatol. 122: 1207-1213.
156. Jetten, A. M., M. A. George, G. R. Pettit, C. L. Herald, and J. I. Rearick. 1989. Action of phorbol esters, bryostatins, and retinoic acid on cholesterol sulfate synthesis: relation to the multistep process of differentiation in human epidermal keratinocytes. J. Invest. Dermatol. 93: 108-115.
157. Jetten, A. M., A. R. Brody, M. A. Deas, G. E. Hook, J. I. Rearick, and S. M. Thacher. 1987. Retinoic acid and substratum regulate the differentiation of rabbit tracheal epithelial cells into squamous and secretory phenotype. Morphological and biochemical characterization. Lab. Invest. 56: 654-664.
158. Kagehara, M., M. Tachi, K. Harii, and M. Iwamori. 1994. Programmed expression of cholesterol sulfotransferase and transglutaminase during epidermal differentiation of murine skin development. Biochim. Biophys. Acta. 1215: 183-189.
159. Hanley, K.,Y.Jiang, C. Katagiri, K. R. Feingold, and M. L. Williams. 1997. Epidermal steroid sulfatase and cholesterol sulfotransferase are regulated during late gestation in the fetal rat. J. Invest. Dermatol. 108: 871-875.
160. Komuves, L. G., K. Hanley, Y. Jiang, C. Katagiri, P. M. Elias, M. L. Williams, and K. R. Feingold. 1999. Induction of selected lipid metabolic enzymes and differentiation-linked structural proteins by air exposure in fetal rat skin explants. J. Invest. Dermatol. 112: 303-309.
161. Strott, C. A. 2002. Sulfonation and molecular action. Endocr. Rev. 23: 703-732.
162. Strott, C. A., and Y. Higashi. 2003. Cholesterol sulfate in human physiology: what's it all about? J. Lipid Res. 44: 1268-1278.
163. Jiang, Y. J., P. Kim, P. M. Elias, and K. R. Feingold. 2005. LXR and PPAR activators stimulate cholesterol sulfotransferase type 2 isoform 1b in human keratinocytes. J. Lipid Res. 46: 2657-2666.
164. Kashiwagi, M., M. Ohba, K. Chida, and T. Kuroki. 2002. Protein kinase C eta (PKC eta): its involvement in keratinocyte differentiation. J. Biochem. (Tokyo). 132: 853-857.
165. Denning, M. F., A. A. Dlugosz, E. K. Williams, Z. Szallasi, P. M. Blumberg, and S. H. Yuspa. 1995. Specific protein kinase C isozymes mediate the induction of keratinocyte differentiation markers by calcium. Cell Growth Differ. 6: 149-157.
166. Ikuta, T., K. Chida, O. Tajima, Y. Matsuura, M. Iwamori, Y. Ueda, K. Mizuno, S. Ohno, and T. Kuroki. 1994. Cholesterol sulfate, a novel activator for the eta isoform of protein kinase C. Cell Growth Differ. 5: 943-947.
167. Kuroki, T., T. Ikuta, M. Kashiwagi, S. Kawabe, M. Ohba, N. Huh, K. Mizuno, S. Ohno, E. Yamada, and K. Chida. 2000. Cholesterol sulfate, an activator of protein kinase C mediating squamous cell differentiation: a review. Mutat. Res. 462: 189-195.
168. Kawabe, S., T. Ikuta, M. Ohba, K. Chida, E. Ueda, K. Yamanishi, and T. Kuroki. 1998. Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes. J. Invest. Dermatol. 111: 1098-1102.
169. Hanley, K., L. Wood, D. C. Ng, S. S. He, P. Lau, A. Moser, P. M. Elias, D. D. Bikle, M. L. Williams, and K. R. Feingold. 2001. Cholesterol sulfate stimulates involucrin transcription in keratinocytes by increasing Fra-1, Fra-2, and Jun D. J. Lipid Res. 42: 390-398.
170. Lavrijsen, A. P., E. Oestmann, J. Hermans, H. E. Bodde, B.J. Vermeer, and M. Ponec. 1993. Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate. Br. J. Dermatol. 129: 547-553.
171. 171.Johansen, J. D., D. Ramsing, G. Vejlsgaard, and T. Agner. 1995. Skin barrier properties in patients with recessive X-linked ichthyosis. Acta Derm. Venereol. 75: 202-204.
172. Zettersten, E., M. Q. Man, J. Sato, M. Denda, A. Farrell, R. Ghadially, M. L. Williams, K. R. Feingold, and P. M. Elias. 1998. Recessive X-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J. Invest. Dermatol. 111: 784-790.
173. Feingold, K. R., M. Q. Man, G. K. Menon, S. S. Cho, B. E. Brown, and P. M. Elias. 1990. Cholesterol synthesis is required for cutaneous barrier function in mice. J. Clin. Invest. 86: 1738-1745.
174. Williams, M. L., S. L. Rutherford, and K R. Feingold. 1987. Effects of cholesterol sulfate on lipid metabolism in cultured human keratinocytes and fibroblasts. J. Lipid Res. 28: 955-967.
175. Nemes, Z., M. Demeny, L. N. Marekov, L. Fesus, and P. M. Steinert 2000. Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine. J. Biol. Chem. 275: 2636-2646.
176. Frost, P., G. D. Weinstein, and E. J. Van Scott. 1966. The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation. J. Invest. Dermatol. 47: 561-567.
177. Ekholm, I. E., M. Brattsand, and T. Egelrud. 2000. Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process? J. Invest. Dermatol. 114: 56-63.
178. Ohman, H., and A. Vahlquist. 1998. The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the "acid skin mantle"? J. Invest. Dermatol. 111: 674-677.
179. Epstein, E. H., M. L. Williams, and P. M. Elias. 1984. The epidermal cholesterol sulfate cycle. J. Am. Acad. Dermatol. 10: 866-868.
180. Abraham, W., P. W. Wertz, L. Landmann, and D. T. Downing. 1987. Stratum corneum lipid liposomes: calcium-induced transformation into lamellar sheets. J. Invest. Dermatol. 88: 212-214.
181. Hatfield, R. M., and L. W. Fung. 1999. A new model system for lipid interactions in stratum corneum vesicles: effects of lipid composition, calcium, and pH. Biochemistry. 38: 784-791.
182. Stone, D. L., W. F. Carey, J. Christodoulou, D. Sillence, P. Nelson, M. Callahan, N. Tayebi, and E. Sidransky. 2000. Type 2 Gaucher disease: the collodion baby phenotype revisited. Arch. Dis. Child. Fetal Neonatal Ed. 82: F163-F166.
183. Holleran, W. M., E. I. Ginns, G. K. Menon, J. U. Grundmann, M. Fartasch, C. E. McKinney, P. M. Elias, and E. Sidransky. 1994. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J. Clin. Invest. 93: 1756-1764.
184. Sidransky, E. 2004. Gaucher disease: complexity in a "simple" disorder. Mol. Genet. Metab. 83: 6-15.
185. Schmuth, M., F. Weber, E. Paschke, N. Sepp, and P. Fritsch. 1999. Delayed epidermal permeability repair in patients with sphingomyelinase deficiency (Niemann-Pick disease). J. Invest. Dermatol. 112: 542.
186. Uchida, Y., M. Hara, H. Nishio, E. Sidransky, S. Inoue, F. Otsuka, A. Suzuki, P. M. Elias, W. M. Holleran, and S. Hamanaka. 2000. Epidermal sphingomyelins are precursors for selected stratum corneum ceramides. J. Lipid Res. 41: 2071-2082.
187. Sidransky, E., M. Fartasch, R. E. Lee, L. A. Metlay, S. Abella, A. Zimran, W. Gao, P. M. Elias, E. I. Ginns, and W. M. Holleran. 1996. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr. Res. 39: 134-141.
188. Jensen, J. M., S. Schutze, M. Forl, M. Kronke, and E. Proksch. 1999. Roles for tumor necrosis factor receptor p55 and sphingomyelinase in repairing the cutaneous permeability barrier. J. Clin. Invest. 104: 1761-1770.
189. Marsh, N. L., P. M. Elias, and W. M. Holleran. 1995. Glucosylceramides stimulate murine epidermal hyperproliferation. J. Clin. Invest. 95: 2903-2909.
190. Akiyama, M. 1999. The pathogenesis of severe congenital ichthyosis of the neonate. J. Dermatol. Sci. 21: 96-104.
191. Milner, M. E., W. M. O'Guin, K. A. Holbrook, and B. A. Dale. 1992. Abnormal lamellar granules in harlequin ichthyosis. J. Invest. Dermatol. 99: 824-829.
192. Elias, P. M., M. Fartasch, D. Crumrine, M. Behne, Y. Uchida, and W. M. Holleran. 2000. Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes. J. Invest. Dermatol. 115: 765-769.
193. Hollenstein, K., D. Frei, and K. Locher. 2007. Structure of an ABC transporter in complex with its binding protein. Nature. 446: 213-216.
194. Akiyama, M., Y. Sugiyama-Nakagiri, K. Sakai, J. R. McMillan, M. Goto, K. Arita, Y. Tsuji-Abe, N. Tabata, K. Matsuoka, R. Sasaki, et al. 2005. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J. Clin. Invest. 115: 1777-1784.
195. Allikmets, R., B. Gerrard, A. Hutchinson, and M. Dean. 1996. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Hum. Mol. Genet. 5: 1649-1655.
196. Borst, P., and R. O. Elferink. 2002. Mammalian ABC transporters in health and disease. Annu. Rev. Biochem. 71: 537-592.
197. Dean, M., A. Rzhetsky, and R. Allikmets. 2001. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 11: 1156-1166.
198. Jiang, Y. J., B. Lu, P. Kim, G. Paragh, G. Schmitz, P. M. Elias and K. R. Feingold. 2008. PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. J. Invest. Dermatol. 128: 104-109.
199. Mulugeta, S., J. M. Gray, K. L. Notarfrancesco, L. W. Gonzales, M. Koval, S. I. Feinstein, P. L. Ballard, A. B. Fisher, and H. Shuman. 2002. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J. Biol. Chem. 277: 22147-22155.
200. Yamano, G., H. Funahashi, O. Kawanami, L. X. Zhao, N. Ban, Y. Uchida, T. Morohoshi, J. Ogawa, S. Shioda, and N. Inagaki. 2001. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett. 508: 221-225.
201. Sakai, K., M. Akiyama, Y. Sugiyama-Nakagiri, J. R. McMillan, D. Sawamura, and H. Shimizu. 2007. Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Exp. Dermatol. 16: 920-926.
202. Lefevre, C., S. Audebert, F. Jobard, B. Bouadjar, H. Lakhdar, O. Boughdene-Stambouli, C. Blanchet-Bardon, R. Heilig, M. Foglio, J. Weissenbach, et al. 2003. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum. Mol. Genet. 12: 2369-2378.
203. Thomas, A. C., T. Cullup, E. E. Norgett, T. Hill, S. Barton, B. A. Dale, E. Sprecher, E. Sheridan, A. E. Taylor, R. S. Wilroy, et al. 2006. ABCA12 is the major harlequin ichthyosis gene. J. Invest. Dermatol. 126: 2408-2413.
204. Kelsell, D. P., E. E. Norgett, H. Unsworth, M. T. Teh, T. Cullup, C. A. Mein, P. J. Dopping-Hepenstal, B. A. Dale, G. Tadini, P. Fleckman, et al. 2005. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am. J. Hum. Genet. 76: 794-803.
205. Moskowitz, D. G., A. J. Fowler, M. B. Heyman, S. P. Cohen, D. Crumrine, P. M. Elias, and M. L. Williams. 2004. Pathophysiological basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J. Pediatr. 145: 82-92.
206. Rassner, U. A., D. A. Crumrine, P. Nau, and P. M. Elias. 1997. Microwave incubation improves lipolytic enzyme preservation for ultrastructural cytochemistry. Histochem. J. 29: 387-392.
207. Brattsand, M., K. Stefansson, C. Lundh, Y. Haasum, and T. Egelrud. 2005. A proteolytic cascade of kallikreins in the stratum corneum. J. Invest. Dermatol. 124: 198-203.
208. Caubet, C., N. Jonca, M. Brattsand, M. Guerrin, D. Bernard, R. Schmidt, T. Egelrud, M. Simon, and G. Serre. 2004. Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J. Invest. Dermatol. 122: 1235-1244.
209. Horikoshi, T., S. Igarashi, H. Uchiwa, H. Brysk, and M. M. Brysk. 1999. Role of endogenous cathepsin D-like and chymotrypsin-like proteolysis in human epidermal desquamation. Br. J. Dermatol. 141: 453-459.
210. Sprecher, E., A. Ishida-Yamamoto, M. Mizrahi-Koren, D. Rapaport, D. Goldsher, M. Indelman, O. Topaz, I. Chefetz, H. Keren, T. J. O'Brien, et al. 2005. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am. J. Hum. Genet. 77: 242-251.
211. Hepp, R., and K. Langley. 2001. SNAREs during development. Cell Tissue Res. 305: 247-253.
212. Cartlidge, P., and N. Rutter. 1998. Skin barrier function. In Fetal and Neonatal Physiology. R. Polin and W. Fox, editors. WB Saunders, Philadelphia, PA. 771-788.
213. Greene, S. L., and S. A. Muller. 1985. Netherton's syndrome. Report of a case and review of the literature. J. Am. Acad. Dermatol. 13: 329-337.
214. Sybert, V. P. 1997. Genetic Skin Disorders. Oxford University Press, Oxford, UK. 13-16, 205-206.
215. Traupe, H. 1989. Ichthyosis. A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Springer Verlag, New York. 253.
216. Williams, M., and T. Shwayder. 1995. Ichthyosis and disorders of cornification. In Pediatric Dermatology. Churchill Livingstone, New York. 413-454.
217. Judge, M. R., G. Morgan, and J. I. Harper. 1994. A clinical and immunological study of Netherton's syndrome. Br. J. Dermatol. 131: 615-621.
218. Freedberg, I. M., and H. P. Baden. 1962. The metabolic response to exfoliation. J. Invest. Dermatol. 38: 277-284.
219. Perlstein, P. 1997. Physical environment. In Neonatal-Perinatal Medicine. A. Fanaroff and R. Martin, editors. Mosby-Year Book, St. Louis, MO. 481-501.
220. Williams, M. L., and P. M. Elias. 1987. Genetically transmitted, generalized disorders of cornification. The ichthyoses. Dermatol. Clin. 5: 155-178.
221. Fowler, A. J., D. G. Moskowitz, A. Wong, S. P. Cohen, M. L. Williams, and M. B. Heyman. 2004. Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure. J. Pediatr. Gastroenterol. Nutr. 38: 164-169.
222. Williams, M. L., K. Hanley, P. M. Elias, and K. R. Feingold. 1998. Ontogeny of the epidermal permeability barrier. J. Investig. Dermatol. Symp. Proc. 3: 75-79.
223. Lampe, M. A., A. L. Burlingame, J. Whitney, M. L. Williams, B. E. Brown, E. Roitman, and P. M. Elias. 1983. Human stratum corneum lipids: characterization and regional variations. J. Lipid Res. 24: 120-130.
224. Elias, P. M., E. R. Cooper, A. Korc, and B. E. Brown. 1981. Percutaneous transport in relation to stratum corneum structure and lipid composition. J. Invest. Dermatol. 76: 297-301.
225. Elias, P. M., D. Crumrine, U. Rassner, J. P. Hachem, G. K. Menon, W. Man, M. H. Choy, L. Leypoldt, K. R. Feingold, and M. L. Williams. 2004. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. JInvest Dermatol. 122: 314-319.
226. van den Brink, D. M., and R. J. Wanders. 2006. Phytanic acid:
227. production from phytol, its breakdown and role in human disease. Cell Mol Life Sci. 63: 1752-1765.
228. Shibaki, A., M. Akiyama and H. Shimizu. 2004. Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjogren-Larsson syndrome. JInvest Dermatol. 123: 1197-1199.
229. Holleran, W. M., E. I. Ginns, G. K. Menon, J. U. Grundmann, M. Fartasch, C. E. McKinney, P. M. Elias, and E. Sidransky. 1994. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest. 93: 1756-1764.
230. Schmuth, M., M. Q. Man, F. Weber, W. Gao, K. R. Feingold, P. Fritsch, P. M. Elias, and W. M. Holleran. 2000. Permeability barrier disorder in Niemann-Pick disease: sphingomyelin- ceramide processing required for normal barrier homeostasis. J Invest Dermatol. 115: 459-466.