Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)

Journal of Investigative Dermatology

Volumn 126, Issue 9, 2006, Pages 2032-2038

  Demerjian, Marianne ^a   Crumrine, Debra A ^a   Milstone, Leonard M ^b,c   Williams, Mary L ^a   Elias, Peter M ^a,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b YALE UNIVERSITY   (United States)

^c VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHANARIN DORFMAN SYNDROME; CHILD; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; ICHTHYOSIS; LIPIDOSIS; MEMBRANE PERMEABILITY; MEMBRANE STRUCTURE; PATHOGENESIS; PRIORITY JOURNAL; SKIN WATER LOSS;

ADULT; CHILD; EPIDERMIS; ESTERASES; FAMILY HEALTH; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; INCLUSION BODIES; LIPASE; LIPID METABOLISM; LIPID METABOLISM, INBORN ERRORS; MICROSCOPY, ELECTRON; PERMEABILITY; SYNDROME; WATER;

EID: 33747332788     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700332     Document Type: Article

References (42)

1. Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H (2003) Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 121:1029-34
2. Bangham AD (1972) Lipid bilayers and biomembranes. Annu Rev Biochem 41:753-76
3. Caubet C, Jonca N, Brattsand M, Guerrin M, Bernard D, Schmidt R et al. (2004) Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J Invest Dermatol 122:1235-44
4. Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W et al. (2004) Basis for abnormal desquamation and permeability barrier dysfuncion in RXLI. J Invest Dermatol 122:314-9
5. Elias PM, Cullander C, Mauro T, Rassner U, Komuves L, Brown BE et al. (1998) The secretory granular cell: the outermost granular cell as a specialized secretory cell. J Investig Dermatol Symp Proc 3:87-100
6. Elias PM, McNutt NS, Friend DS (1977) Membrane alterations during cornification of mammalian squamous epithelia: a freeze-fracture, tracer, and thin-section study. Anat Rec 189:577-94
7. Elias PM, Menon GK (1991) Structural and lipid biochemical correlates of the epidermal permeability barrier. Adv Lipid Res 24:1-26
8. Elias PM, Williams ML (1985) Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. Arch Dermatol 121:1000-8
9. El-Shoura SM, Tallab TM (1997) Richner-Hanhart's syndrome: new ultrastructural observations on skin lesions of two cases. Ultrastruct Pathol 21:51-6
10. Feingold KR (1991) The regulation and role of epidermal lipid synthesis. Adv Lipid Res 24:57-82
11. Gfesser M, Abeck D, Rugemer J, Schreiner V, Stab F, Disch R et al. (1997) The early phase of epidermal barrier regeneration is faster in patients with atopic eczema. Dermatology 195:332-6
12. Hachem JP, Crumrine D, Fluhr J, Brown BE, Feingold KR, Elias PM (2003) pH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion. J Invest Dermatol 121:345-53
13. Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE et al. (1994) Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 93:1756-64
14. Igal RA, Coleman RA (1996) Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. J Biol Chem 271:16644-51
15. Igal RA, Coleman RA (1998) Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. J Lipid Res 39:31-43
16. Jensen JM, Schütze S, Förl M, Krönke M, Proksch E (1999) Roles for tumor necrosis factor receptor p55 and sphingomyelinase is repairing the cutaneous permeability barrier. J Invest Dermatol 104:1761-70
17. Jiang SJ, Hwang SM, Choi EH, Elias PM, Ahn SK, Lee SH (2000) Structural and functional effects of oleic acid and iontophoresis on hairless mouse stratum corneum. J Invest Dermatol 114:64-70
18. Johnson BL, Kramer EM, Lavker RM (1987) The keratotic tumors of Cowden's disease: an electronmicroscopic study. J Cutan Pathol 14:291-8
19. Kanerva L (1990) Electron microscopy of the effects of dithranol on healthy and on psoriatic skin. Am J Dermopathol 12:51-62
20. Lavrijsen AP, Bouwstra JA, Gooris GS, Weerheim A, Bodde HE, Ponec M (1995) Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis. J Invest Dermatol 105:619-24
21. Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R 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 69:1002-12
22. Mao-Qiang M, Feingold KR, Elias PM (1993) Exogenous lipids influence permeability barrier recovery in acetone-treated murine skin. Arch Dermatol 129:728-38
23. Menon GK, Ghadially R, Williams ML, Elias PM (1992) Lamellar bodies as delivery systems of hydrolytic enzymes: implications for normal and abnormal desquamation. Br J Dermatol 126:337-45
24. Monteiro-Riviere NA, Inman AO, Riviere JE (2004) Skin toxicity of jet fuels: ultrastructural studies and the effects of substance P. Toxicol Appl Pharmacol 195:339-47
25. Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM et al. (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
26. Newman GR, Jasani B, Williams ED (1983) A simple post-embedding system for the rapid demonstration of tissue antigens under the electron microscope. Histochem J 15:543-55
27. Rassner U, Feingold KR, Crumrine DA, Elias PM (1999) Coordinate assembly of lipids and enzyme proteins into epidermal lamellar bodies. Tissue Cell 31:489-98
28. Rehfeld SJ, Plachy WZ, Williams ML, Elias PM (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
29. Rehfeld SJ, Williams ML, Elias PM (1986) Interactions of cholesterol and cholesterol sulfate with free fatty acids: possible relevance for the pathogenesis of recessive X-linked ichthyosis. Arch Dermatol Res 278:259-63
30. Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M et al. (2004) Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol 122:909-22
31. Schmuth M, Man MQ, Weber F, Gao W, Feingold KR, Fritsch P et al. (2000) Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis. J Invest Dermatol 115:459-66
32. Schmuth M, Yosipovitch G, Williams ML, Weber F, Hintner H, Ortiz-Urda S et al. (2001) Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. J Invest Dermatol 117:837-47
33. Seidenari S, Giusti G (1995) Objective assessment of the skin of children affected by atopic dermatitis: a study of pH, capacitance and TEWL in eczematous and clinically uninvolved skin. Acta Dermatol Venereol 75:429-33
34. Shibaki A, Akiyama M, Shimizu H (2004) Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjogren-Larsson syndrome. J Invest Dermatol 123:1197-9
35. Swartzendruber DC, Burnett IH, Wertz PW, Madison KC, Squier CA (1995) Osmium tetroxide and ruthenium tetroxide are complementary reagents for the preparation of epidermal samples for transmission electron microscopy. J Invest Dermatol 104:417-20
36. van den Brink DM, van Miert JN, Dacremont G, Rontani JF, Jansen GA, Wanders RJ (2004) Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab 82:33-7
37. Williams ML (1992) Ichthyosis: mechanisms of disease. Pediatr Dermatol 9:365-8
38. Williams ML, Coleman RA, Placzek D, Grunfeld C (1991) Neutral lipid storage disease with ichthyosis: evidence for a functional defect in phospholipid-linked triacylglycerol metabolism in cultured fibroblasts. Biochem Biophys Acta 1096:162-9
39. Williams ML, Koch TK, O'Donnell JJ, Frost PH, Epstein LB, Grizzard WS et al. (1985) Ichthyosis and neutral lipid storage disease. Am J Med Genet 20:711-26
40. Yamaguchi T, Omatsu N, Matsushita S, Osumi T (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 279:30490-7
41. Zaynoun ST, Aftimos BG, Tenekjian KK, Bahuth N, Kurban AK (1983) Extensive pityriasis alba: a histochemical and ultrastructural study. Br J Dermatol 108:83-90
42. Zettersten E, Man MQ, Sato J, Denda M, Farrell A, Ghadially R et al. (1998) Recessive X-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J Invest Dermatol 111:784-90