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Review

Emerging drugs for ichthyosis

, MD PhD
Pages 647-656 | Published online: 05 Nov 2007

Bibliography

  • OJI V, TRAUPE H: Ichthyoses: differential diagnosis and molecular genetics. Eur. J. Dermatol. (2006) 16:349-359.
  • PALMER CN, IRVINE AD, TERRON-KWIATKOWSKI A et al.: Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat. Genet. (2006) 38:441-446.
  • STEINERT PM, MAREKOV LN: The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope. J. Biol. Chem. (1995) 270:17702-17711.
  • SANDILANDS A, TERRON-KWIATKOWSKI A, HULL PR et al.: Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat. Genet. (2007) 39:650-654.
  • WEIDINGER S, ILLIG T, BAURECHT H et al.: Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J. Allergy Clin. Immunol. (2006) 118:214-219.
  • ZETTERSTEN E, MAN MQ, SATO J et al.: Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J. Invest. Dermatol. (1998) 111:784-790.
  • NEMES Z, DEMENY M, MAREKOV LN, FESUS L, STEINERT PM: 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. (2000) 275:2636-2646.
  • SATO J, DENDA M, NAKANISHI J, NOMURA J, KOYAMA J: Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum. J. Invest. Dermatol. (1998) 111:189-193.
  • LEFEVRE C, AUDEBERT S, JOBARD F et al.: Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum. Mol. Genet. (2003) 12:2369-2378.
  • LEFEVRE C, BOUADJAR B, KARADUMAN A et al.: Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum. Mol. Genet. (2004) 13:2473-2482.
  • KELSELL DP, NORGETT EE, UNSWORTH H et al.: Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am. J. Hum. Genet. (2005) 76:794-803.
  • LEFEVRE C, JOBARD F, CAUX F et al.: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am. J. Hum. Genet. (2001) 69:1002-1012.
  • LASS A, ZIMMERMANN R, HAEMMERLE G et al.: Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman syndrome. Cell Metab. (2006) 3:309-319.
  • CHENG J, SYDER AJ, YU QC, LETAI A, PALLER AS, FUCHS E: The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell (1992) 70:811-819.
  • ROTHNAGEL JA, DOMINEY AM, DEMPSEY LD et al.: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science (1992) 257:1128-1130.
  • GANEMO A, SJODEN PO, JOHANSSON E, VAHLQUIST A, LINDBERG M: Health-related quality of life among patients with ichthyosis. Eur. J. Dermatol. (2004) 14:61-66.
  • LAWSON JP, MCGUIRE J: The spectrum of skeletal changes associated with long-term administration of 13-cis-retinoic acid. Skeletal Radiol. (1987) 16:91-97.
  • LAMMER EJ, CHEN DT, HOAR RM et al.: Retinoic acid embryopathy. N. Engl. J. Med. (1985) 313:837-841.
  • MARTY JP: NMF and cosmetology of cutaneous hydration. Ann. Dermatol. Venereol. (2002) 129:131-136.
  • WAUGH J, NOBLE S, SCOTT LJ: Adapalene: a review of its use in the treatment of acne vulgaris. Drugs (2004) 64:1465-1478.
  • FOSTER RH, BROGDEN RN, BENFIELD P: Tazarotene. Drugs (1998) 55:705-711; discussion 712.
  • LUCKER GP, VAN DE KERKHOF PC, STEIJLEN PM: Topical calcipotriol in the treatment of epidermolytic palmoplantar keratoderma of Vorner. Br. J. Dermatol. (1994) 130:543-545.
  • KRAGBALLE K, STEIJLEN PM, IBSEN HH et al.: Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Results of a randomized, double-blind, vehicle-controlled, right/left comparative study. Arch. Dermatol. (1995) 131:556-560.
  • LUCKER GP, HEREMANS AM, BOEGHEIM PJ, VAN DE KERKHOF PC, STEIJLEN PM: Oral treatment of ichthyosis by the cytochrome P-450 inhibitor liarozole. Br. J. Dermatol. (1997) 136:71-75.
  • KUIJPERS AL, VAN PELT JP, BERGERS M et al.: The effects of oral liarozole on epidermal proliferation and differentiation in severe plaque psoriasis are comparable with those of acitretin. Br. J. Dermatol. (1998) 139:380-389.
  • VAN PELT JP, DE JONG EM, DE BAKKER ES, VAN DE KERKHOF PC: Effects of systemic treatment with liarozole on cutaneous inflammation, epidermal proliferation and differentiation in extensive plaque psoriasis. Skin Pharmacol. Appl. Skin Physiol. (1998) 11:70-79.
  • BERTH-JONES J, TODD G, HUTCHINSON PE, THESTRUP-PEDERSEN K, VANHOUTTE FP: Treatment of psoriasis with oral liarozole: a dose-ranging study. Br. J. Dermatol. (2000) 143:1170-1176.
  • BHUSHAN M, BURDEN AD, MCELHONE K, JAMES R, VANHOUTTE FP, GRIFFITHS CE: Oral liarozole in the treatment of palmoplantar pustular psoriasis: a randomized, double-blind, placebo-controlled study. Br. J. Dermatol. (2001) 145:546-553.
  • VERFAILLE CJ, THISSEN CACB, BOVENSCHEN HJ, MERTENS J, STEIJLEN PM, VAN DE KERKHOF PCM: Oral R115866 in the treatment of moderate to severe plaque-type psoriasis. J. Eur. Acad. Dermatol. Venereol. (2007).
  • VERFAILLE CJ, VANHOUTTE FP, BLANCHET-BARDON C, VAN STEENSEL MA, STEIJLEN PM: Oral liarozole vs. acitretin in the treatment of ichthyosis: a Phase II/III multicentre, double-blind, randomized, active-controlled study. Br. J. Dermatol. (2007).
  • BLOMHOFF R, GREEN MH, GREEN JB, BERG T, NORUM KR: Vitamin A metabolism: new perspectives on absorption, transport, and storage. Physiol. Rev. (1991) 71:951-990.
  • BLOMHOFF R: Transport and metabolism of vitamin A. Nutr. Rev. (1994) 52:S13-S23.
  • HARRISON EH, HUSSAIN MM: Mechanisms involved in the intestinal digestion and absorption of dietary vitamin A. J. Nutr. (2001) 131:1405-1408.
  • ONG DE, DAVIS JT, O'DAY WT, BOK D: Synthesis and secretion of retinol-binding protein and transthyretin by cultured retinal pigment epithelium. Biochemistry (1994) 33:1835-1842.
  • GOLZIO C, MARTINOVIC-BOURIEL J, THOMAS S et al.: Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am. J. Hum. Genet. (2007) 80:1179-1187.
  • KAWAGUCHI R, YU J, HONDA J et al.: A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A. Science (2007) 315:820-825.
  • PASUTTO F, STICHT H, HAMMERSEN G et al.: Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am. J. Hum. Genet. (2007) 80:550-560.
  • LAMPRON C, ROCHETTE-EGLY C, GORRY P et al.: Mice deficient in cellular retinoic acid binding protein II (CRABPII) or in both CRABPI and CRABPII are essentially normal. Development (1995) 121:539-548.
  • ONG DE: Cellular transport and metabolism of vitamin A: roles of the cellular retinoid-binding proteins. Nutr. Rev. (1994) 52:S24-S31.
  • FINZI E, BLAKE MJ, CELANO P, SKOUGE J, DIWAN R: Cellular localization of retinoic acid receptor-γ expression in normal and neoplastic skin. Am. J. Pathol. (1992) 140:1463-1471.
  • BALMER JE, BLOMHOFF R: Gene expression regulation by retinoic acid. J. LipidRes. (2002) 43:1773-1808.
  • FIORELLA PD, NAPOLI JL: Microsomal retinoic acid metabolism. Effects of cellular retinoic acid-binding protein (type I) and C18-hydroxylation as an initial step. J. Biol. Chem. (1994) 269:10538-10544.
  • WHITE JA, GUO YD, BAETZ K et al.: Identification of the retinoic acid-inducible all-trans-retinoic acid 4-hydroxylase. J. Biol. Chem. (1996) 271:29922-29927.
  • VAN WAUWE JP, COENE MC, GOOSSENS J, COOLS W, MONBALIU J: Effects of cytochrome P-450 inhibitors on the in vivo metabolism of all-trans-retinoic acid in rats. J. Pharmacol. Exp. Ther. (1990) 252:365-369.
  • VAN WAUWE JP, COENE MC, GOOSSENS J, VAN NIJEN G, COOLS W, LAUWERS W: Ketoconazole inhibits the in vitro and in vivo metabolism of all-trans-retinoic acid. J. Pharmacol. Exp. Ther. (1988) 245:718-722.
  • VAN WAUWE J, VAN NYEN G, COENE MC et al.: Liarozole, an inhibitor of retinoic acid metabolism, exerts retinoid-mimetic effects in vivo. J. Pharmacol.Exp. Ther. (1992) 261:773-779.
  • BRYSON HM, WAGSTAFF AJ: Liarozole. Drugs Aging (1996) 9:478-484; discussion 485.
  • STOPPIE P, BORGERS M, BORGHGRAEF P et al.: R115866 inhibits all-trans-retinoic acid metabolism and exerts retinoidal effects in rodents. J. Pharmacol.Exp. Ther. (2000) 293:304-312.
  • COOLS M, STOPPIE P, CAUWENBERGH G, VANHOUTTE FP, VANDEPLASSCHE L: Tolerability, safety and pharmacokinetics of single and multiple oral dosages of R115866 (Rambazole™) in healthy volunteers. Spring conference of the European academy of dermatology and venereology, Rhodos (2006).
  • DUVIC M, HYMES K, HEALD P et al.: Bexarotene is effective and safe for treatment of refractory advanced-stage cutaneous T-cell lymphoma: multinational Phase II-III trial results. J. Clin. Oncol. (2001) 19:2456-2471.
  • KUENZLI S, SAURAT JH: Effect of topical PPARβ/delta and PPARγ agonists on plaque psoriasis. A pilot study. Dermatology (2003) 206:252-256.
  • FORMAN BM, CHEN J, EVANS RM: The peroxisome proliferator-activated receptors: ligands and activators. Ann. NY Acad. Sci. (1996) 804:266-275.
  • BHAGAVATHULA N, NERUSU KC, LAL A et al.: Rosiglitazone inhibits proliferation, motility, and matrix metalloproteinase production in keratinocytes. J. Invest. Dermatol. (2004) 122:130-139.
  • LEE CH, OLSON P, EVANS RM: Minireview: lipid metabolism, metabolic diseases, and peroxisome proliferator-activated receptors. Endocrinology (2003) 144:2201-2207.
  • ROCHA-PEREIRA P, SANTOS-SILVA A, REBELO I, FIGUEIREDO A, QUINTANILHA A, TEIXEIRA F: Dislipidemia and oxidative stress in mild and in severe psoriasis as a risk for cardiovascular disease. Clin. Chim. Acta (2001) 303:33-39.

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