Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders

Dermato-Endocrinology

Volumn 3, Issue 2, 2011, Pages 100-106

  Elias, Peter M ^a   Crumrine, Debra ^a   Paller, Amy ^b   Rodriguez Martin, Marina ^c   Williams, Mary L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

Author keywords

Barrier function; CDPX2; CHH syndrome; CHILD syndrome; Cholesterol; Desmosterolosis; Ichthyosis; SC4MOL; SC5D; SLOS; Statin

Indexed keywords

CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; ISOPRENOID; LANOSTEROL; MEVINOLIN;

CALCIFYING CHONDRODYSTROPHY; CHOLESTEROL METABOLISM; CHONDRODYSPLASIA PUNCTATA; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECT SYNDROME; DESMOSTEROLOSIS; DISORDERS OF CHOLESTEROL METABOLISM; EPIDERMOLYTIC ICHTHYOSIS; EXOCYTOSIS; HUMAN; ICHTHYOSIS; LAMELLAR BODY; LATHOSTEROLOSIS; NETHERTON DISEASE; NONHUMAN; PATHOGENESIS; PHENOTYPE; REVIEW; SC4MOL DEFICIENCY; SKIN DISEASE; SMITH LEMLI OPITZ SYNDROME; STRATUM CORNEUM; X LINKED ICHTHYOSIS;

EID: 79956091017     PISSN: 19381972     EISSN: 19381980     Source Type: Journal    
DOI: 10.4161/derm.3.2.14831     Document Type: Review

References (62)

1. Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM, et al. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function and energy expenditure. J Pediatr 2004; 145:82-92. (Pubitemid 38962457)
2. Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 2008; 49:697-714.
3. Schmuth M, Gruber R, PM E, Williams M. 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 2007; 23:231-56.
4. Elias PM, Feingold KR. Does the tail wag the dog? Role of the barrier in the pathogenesis of inflammatory dermatoses and therapeutic implications. Arch Dermatol 2001; 137:1079-81. (Pubitemid 32756467)
5. Elias PM, Cullander C, Mauro T, Rassner U, Komuves L, Brown BE, et al. The secretory granular cell: the outermost granular cell as a specialized secretory cell. J Invest Dermatol Symp Proc 1998; 3:87-100. (Pubitemid 29135201)
6. Feingold KR. The outer frontier: the importance of lipid metabolism in the skin. J Lipid Res 2009; 50:417-22.
7. Elias P, Williams M, Crumrine D, Schmuth M. Ichthyoses - clinical, biochemical, pathogenic and diagnostic assessment. Curr Probl Dermatol; 39:144.
8. Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 2011; 52:6-34.
9. Kelley RI, Herman GE. Inborn errors of sterol biosynthesis. Annu Rev Genomics Hum Genet 2001; 2:299-341. (Pubitemid 35265010)
10. Haas D, Kelley RI, Hoffmann GF. Inherited disorders of cholesterol biosynthesis. Neuropediatrics 2001; 32:113-22. (Pubitemid 32747622)
11. Moebius FF, Fitzky BU, Glossmann H. Genetic defects in postsqualene cholesterol biosynthesis. Trends Endocrinol Metab 2000; 11:106-14. (Pubitemid 30164203)
12. Herman GE. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet 2003; 12:75-88.
13. Porter FD. Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr 2003; 15:607-13. (Pubitemid 37487376)
14. FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, et al. Clinical phenotype of desmosterolosis. Am J Med Genet 1998; 75:145-52. (Pubitemid 28034490)
15. Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, et al. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol-5-desaturase deficiency. Hum Mol Genet 2003; 12:1631-41. (Pubitemid 36857309)
16. He M, Kratz L, Michel, lJ, Vallejo A, Ferris L, Kelley R, Hoover J, et al. Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause psoriasiform dermatitis, microcephaly and developmental delay. Nature Precedings 2008; hdl:10101/npre.2008.2163.1.
17. Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W, et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol 2004; 122:314-9. (Pubitemid 38281050)
18. Singh P, Saxena R, Paila YD, Jafurulla M, Chattopadhyay A. Differential effects of cholesterol and desmosterol on the ligand binding function of the hippocampal serotonin(1A) receptor: implications in desmosterolosis. Biochim Biophys Acta 2009; 1788:2169-73.
19. Rodriguez-Acebes S, de la Cueva P, Fernandez-Hernando C, Ferruelo AJ, Lasuncion MA, Rawson RB, et al. Desmosterol can replace cholesterol in sustaining cell proliferation and regulating the SREBP pathway in a sterol-Delta24-reductase-deficient cell line. Biochem J 2009; 420:305-15.
20. Feingold KR. The regulation and role of epidermal lipid synthesis. Adv Lipid Res 1991; 24:57-82.
21. Bjorkhem I. Are side-chain oxidized oxysterols regulators also in vivo? J Lipid Res 2009; 50:213-8.
22. Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, et al. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 2003; 33:508-13. (Pubitemid 36390014)
23. Happle R. X-chromosome inactivation: role in skin disease expression. Acta Paediatr Suppl 2006; 95:16-23. (Pubitemid 43739090)
24. Clayton PT, Kalter DC, Atherton DJ, Besley GT, Broadhead DM. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hunermann syndrome. J Inherit Metab Dis 1989; 12:358-60. (Pubitemid 19208041)
25. Holmes RD, Wilson GN, Hajra AK. Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata. N Engl J Med 1987; 316:1608. (Pubitemid 17083607)
26. Emami S, Rizzo WB, Hanley KP, Taylor JM, Goldyne ME, Williams ML. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. Arch Dermatol 1992; 128:1213-22.
27. Wilson CJ, Aftimos S. X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? Am J Med Genet 1998; 78:300-2.
28. Goldyne ME, Williams ML. CHILD syndrome. Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts. J Clin Invest 1989; 84:357-60. (Pubitemid 19170131)
29. Emami S, Hanley KP, Esterly NB, Daniallinia N, Williams ML. 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 1994; 130:325-36.
30. Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006; 1763:1733-48. (Pubitemid 44880484)
31. DeBose-Boyd RA. Feedback regulation of cholesterol synthesis: sterol-accelerated ubiquitination and degradation of HMG CoA reductase. Cell Res 2008; 18:609-21.
32. Yu H, Patel SB. Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet 2005; 68:383-91. (Pubitemid 41535963)
33. Bommannan D, Menon GK, Okuyama H, Elias PM, Guy RH. Sonophoresis II. Examination of the mechanism(s) of ultrasound-enhanced transdermal drug delivery. Pharm Res 1992; 9:1043-7.
34. Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, et al. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. Am J Med Genet 2000; 94:300-5.
35. Tsai JC, Guy RH, Thornfeldt CR, Gao WN, Feingold KR, Elias PM. Metabolic approaches to enhance transdermal drug delivery: Effect of lipid synthesis inhibitors. J Pharm Sci 1996; 85:643-8. (Pubitemid 26179655)
36. Tint GS, Yu H, Shang Q, Xu G, Patel SB. The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols. J Lipid Res 2006; 47:1535-41. (Pubitemid 44079908)
37. Marcos J, Shackleton CH, Buddhikot MM, Porter FD, Watson GL. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). Steroids 2007; 72:802-8. (Pubitemid 47320712)
38. Andersson HC, Kratz L, Kelley R. Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet 2002; 113:315-9. (Pubitemid 35416606)
39. Happle R. Lyonization and the lines of Blaschko. Hum Genet 1985; 70:200-6. (Pubitemid 15234371)
40. Happle R. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet 1979; 53:65-73.
41. Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, et al. Mutations in a delta8delta7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999; 22:286-90. (Pubitemid 29297257)
42. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, et al. Mutations in the gene encoding 3beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 1999; 22:291-4. (Pubitemid 29297258)
43. Grange DK, Kratz LE, Braverman NE, Kelley RI. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet 2000; 90:328-35. (Pubitemid 30084261)
44. Kubilus J, Tarascio AJ, Baden HP. Steroid-sulfatase deficiency in sex-linked ichthyosis. Am J Hum Genet 1979; 31:50-3. (Pubitemid 9153715)
45. Epstein EH Jr, Krauss RM, Shackleton CH. X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science 1981; 214:659-60.
46. Elias PM, Williams ML, Maloney ME, Bonifas JA, Brown BE, Grayson S, Epstein EHJ. 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 1984; 74:1414-21. (Pubitemid 15200234)
47. 3H- dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency. J Inherit Metab Dis 1988; 11:403-15.
48. Williams ML, Elias PM. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. J Clin Invest 1981; 68:1404-10. (Pubitemid 12194393)
49. Long SA, Wertz PW, Strauss JS, Downing DT. Human stratum corneum polar lipids and desquamation. Arch Dermatol Res 1985; 277:284-7. (Pubitemid 15114234)
50. Ranasinghe AW, Wertz PW, Downing DT, Mackenzie IC. Lipid composition of cohesive and desquamated corneocytes from mouse ear skin. J Invest Dermatol 1986; 86:187-90. (Pubitemid 16132524)
51. Ponec M, Williams ML. Cholesterol sulfate uptake and outflux in cultured human keratinocytes. Arch Dermatol Res 1986; 279:32-6. (Pubitemid 17042710)
52. Zettersten E, Man MQ, Sato J, Denda M, Farrell A, Ghadially R, et al. Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J Invest Dermatol 1998; 111:784-90. (Pubitemid 28509319)
53. Evers BM, Farooqi MS, Shelton JM, Richardson JA, Goldstein JL, Brown MS, Liang G. Hair growth defects in Insig-deficient mice caused by cholesterol precursor accumulation and reversed by simvastatin. J Invest Dermatol 2010; 130:1237-48.
54. Paller A, Rodriguez-Martin M, Van Steensel M, Sorrell J, Heath C, Crumrine D, et al. Pathogenesis (pathway)- based therapy and genetic basis for lateralization in CHILD syndrome. SID 2011 Annual Meeting 2011; Phoenix AZ.
55. Correa-Cerro LS, Wassif CA, Kratz L, Miller GF, Munasinghe JP, Grinberg A, et al. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet 2006; 15:839-51. (Pubitemid 43338227)
56. Mirza R, Hayasaka S, Takagishi Y, Kambe F, Ohmori S, Maki K, et al. DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis. J Invest Dermatol 2006; 126:638-47. (Pubitemid 43255654)
57. Mirza R, Qiao S, Murata Y, Seo H. Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice. Am J Dermatopathol 2009; 31:446-52.
58. Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol 2008; 88:4-14. (Pubitemid 351212127)
59. Fritsch PO. Retinoids in psoriasis and disorders of keratinization. J Am Acad Dermatol 1992; 27:8-14.
60. Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, et al. First-inhuman mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther 2010; 18:442-6.
61. Feingold KR, Man MQ, Proksch E, Menon GK, Brown BE, Elias PM. The lovastatin-treated rodent: a new model of barrier disruption and epidermal hyperplasia. J Invest Dermatol 1991; 96:201-9.
62. Menon GK, Feingold KR, Mao-Qiang M, Schaude M, Elias PM. Structural basis for the barrier abnormality following inhibition of HMG CoA reductase in murine epidermis. J Invest Dermatol 1992; 98:209-19.