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Volumn 2, Issue 6, 2014, Pages 567-577

Pseudoxanthoma elasticum: Diagnostic features, classification and treatment options

Author keywords

Ectopic mineralization disorders; Generalized arterial calcification of infancy; Heritable orphan diseases; Pseudoxanthoma elasticum

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; MAGNESIUM; PYROPHOSPHORIC ACID DERIVATIVE; VASCULOTROPIN INHIBITOR;

EID: 84901323894     PISSN: None     EISSN: 21678707     Source Type: Journal    
DOI: 10.1517/21678707.2014.908702     Document Type: Review
Times cited : (67)

References (85)
  • 1
    • 0023744791 scopus 로고
    • Pseudoxanthoma elasticum
    • Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol 1988;6:1-159
    • (1988) Clin Dermatol , vol.6 , pp. 1-159
    • Neldner, K.H.1
  • 2
    • 84878537533 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Progress in research toward treatment: Summary of the 2012 PXE International Research Meeting
    • Uitto J, Varadi A, Bercovitch L, et al. Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE International Research Meeting. J Invest Dermatol 2013;133:1444-9
    • (2013) J Invest Dermatol , vol.133 , pp. 1444-1449
    • Uitto, J.1    Varadi, A.2    Bercovitch, L.3
  • 4
    • 84980055555 scopus 로고
    • Angioid streaks - Pseudoxanthoma elasticum
    • Grönblad E. Angioid streaks - pseudoxanthoma elasticum. Acta Ophthalmol 1929;7:329
    • (1929) Acta Ophthalmol , vol.7 , pp. 329
    • Grönblad, E.1
  • 5
    • 0000852992 scopus 로고
    • Pseudoxanthoma elasticum
    • Strandberg J. Pseudoxanthoma Elasticum. Z Haut Geschlechtskr 1929;31:689-94
    • (1929) Z Haut Geschlechtskr , vol.31 , pp. 689-694
    • Strandberg, J.1
  • 6
    • 33745037590 scopus 로고
    • Study of circulatory disturbances, pulse wave velocity and pressure pulses in large arteries in cases of pseudoxanthoma elasticum and angioid streaks: A contribution to the knowledge of function of the elastic tissue and the smooth muscles in larger arteries
    • Carlborg U. Study of circulatory disturbances, pulse wave velocity and pressure pulses in large arteries in cases of pseudoxanthoma elasticum and angioid streaks: a contribution to the knowledge of function of the elastic tissue and the smooth muscles in larger arteries. Acta Med Scan 1944;151:1-209
    • (1944) Acta Med Scan , vol.151 , pp. 1-209
    • Carlborg, U.1
  • 7
    • 76649133303 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Molecular genetics and putative pathomechanisms
    • Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol 2010;130:661-70
    • (2010) J Invest Dermatol , vol.130 , pp. 661-670
    • Uitto, J.1    Li, Q.2    Jiang, Q.3
  • 8
    • 35348906644 scopus 로고    scopus 로고
    • Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
    • Pfendner EG, Vanakker OM, Terry SF, et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007;44:621-8
    • (2007) J Med Genet , vol.44 , pp. 621-628
    • Pfendner, E.G.1    Vanakker, O.M.2    Terry, S.F.3
  • 9
    • 28844498292 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
    • Chassaing N, Martin L, Calvas P, et al. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005;42:881-92
    • (2005) J Med Genet , vol.42 , pp. 881-892
    • Chassaing, N.1    Martin, L.2    Calvas, P.3
  • 10
    • 0024546566 scopus 로고
    • The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis
    • Walker ER, Frederickson RG, Mayes MD. The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis. Arch Dermatol 1989;125:70-6
    • (1989) Arch Dermatol , vol.125 , pp. 70-76
    • Walker, E.R.1    Frederickson, R.G.2    Mayes, M.D.3
  • 11
    • 84860276028 scopus 로고    scopus 로고
    • Connective tissue mineralization in Abcc6(-/-) mice, a model for pseudoxanthoma elasticum
    • Kavukcuoglu NB, Li Q, Pleshko N, et al. Connective tissue mineralization in Abcc6(-/-) mice, a model for pseudoxanthoma elasticum. Matrix Biol 2012;31:246-52
    • (2012) Matrix Biol , vol.31 , pp. 246-252
    • Kavukcuoglu, N.B.1    Li, Q.2    Pleshko, N.3
  • 12
    • 76649128440 scopus 로고    scopus 로고
    • Angioid streaks, clinical course, complications, and current therapeutic management
    • Georgalas I, Papaconstantinou D, Koutsandrea C, et al. Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag 2009;5:81-9
    • (2009) Ther Clin Risk Manag , vol.5 , pp. 81-89
    • Georgalas, I.1    Papaconstantinou, D.2    Koutsandrea, C.3
  • 13
    • 4944223829 scopus 로고    scopus 로고
    • In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation
    • Kornet L, Bergen AA, Hoeks AP, et al. In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation. Ultrasound Med Biol 2004;30:1041-8
    • (2004) Ultrasound Med Biol , vol.30 , pp. 1041-1048
    • Kornet, L.1    Bergen, A.A.2    Hoeks, A.P.3
  • 14
    • 80054848385 scopus 로고    scopus 로고
    • Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum
    • Lefthériotis G, Abraham P, Le Corre Y, et al. Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum. J Vasc Surg 2011;54:1390-4
    • (2011) J Vasc Surg , vol.54 , pp. 1390-1394
    • Lefthériotis, G.1    Abraham, P.2    Le Corre, Y.3
  • 15
    • 34547975815 scopus 로고    scopus 로고
    • Pseudoxantoma elasticum as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman
    • Goral V, Demir D, Tuzun Y, et al. Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman. World J Gastroenterol 2007;13:3897-9
    • (2007) World J Gastroenterol , vol.13 , pp. 3897-3899
    • Goral, V.1    Demir, D.2    Tuzun, Y.3
  • 16
    • 0033935256 scopus 로고    scopus 로고
    • Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum
    • van den Berg JSP, Hennekam RCM, Cruysberg JRM, et al. Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis 2000;10:315-19
    • (2000) Cerebrovasc Dis , vol.10 , pp. 315-319
    • Van Den Berg, J.S.P.1    Hennekam, R.C.M.2    Cruysberg, J.R.M.3
  • 17
    • 0037072447 scopus 로고    scopus 로고
    • Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
    • Trip MD, Smulders YM, Wegman JJ, et al. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 2002;106:773-5
    • (2002) Circulation , vol.106 , pp. 773-775
    • Trip, M.D.1    Smulders, Y.M.2    Wegman, J.J.3
  • 18
    • 76949097206 scopus 로고    scopus 로고
    • The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease
    • Köblös G, Andrikovics H, Prohászka Z, et al. The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. Genet Test Mol Biomarkers 2010;14:75-8
    • (2010) Genet Test Mol Biomarkers , vol.14 , pp. 75-78
    • Köblös, G.1    Andrikovics, H.2    Prohászka, Z.3
  • 19
    • 84887028870 scopus 로고    scopus 로고
    • Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
    • Campens L, Vanakker OM, Trachet B, et al. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol 2013;33:2646-52
    • (2013) Arterioscler Thromb Vasc Biol , vol.33 , pp. 2646-2652
    • Campens, L.1    Vanakker, O.M.2    Trachet, B.3
  • 20
    • 0016501096 scopus 로고
    • Historical evidence for the genetic heterogeneity of pseudoxanthomaelasticum
    • Pope FM. Historical evidence for the genetic heterogeneity of pseudoxanthomaelasticum. Br J Dermatol 1975;92:493-509
    • (1975) Br J Dermatol , vol.92 , pp. 493-509
    • Pope, F.M.1
  • 21
    • 24344487872 scopus 로고    scopus 로고
    • Molecular genetics of pseudoxanthoma elasticum: Type and frequency of mutations in ABCC6
    • Miksch S, Lumsden A, Guenther UP, et al. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Hum Mutat 2005;26:235-48
    • (2005) Hum Mutat , vol.26 , pp. 235-248
    • Miksch, S.1    Lumsden, A.2    Guenther, U.P.3
  • 22
    • 33645029409 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity
    • Ringpfeil F, McGuigan K, Fuchsel L, et al. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol 2006;126:782-6
    • (2006) J Invest Dermatol , vol.126 , pp. 782-786
    • Ringpfeil, F.1    McGuigan, K.2    Fuchsel, L.3
  • 23
    • 0027954572 scopus 로고
    • Classification of pseudoxanthoma elasticum: Report of a consensus conference
    • Lebwohl M, Neldner K, Pope FM, et al. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol 1994;30:103-7
    • (1994) J Am Acad Dermatol , vol.30 , pp. 103-107
    • Lebwohl, M.1    Neldner, K.2    Pope, F.M.3
  • 24
    • 38849135998 scopus 로고    scopus 로고
    • Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
    • Vanakker OM, Leroy BP, Coucke P, et al. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat 2008;29:205
    • (2008) Hum Mutat , vol.29 , pp. 205
    • Vanakker, O.M.1    Leroy, B.P.2    Coucke, P.3
  • 25
    • 77950418408 scopus 로고    scopus 로고
    • Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings
    • Plomp AS, Toonstra J, Bergen AA, et al. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. Am J Med Genet A 2010;152A:1049-58
    • (2010) Am J Med Genet A , vol.152 A , pp. 1049-1058
    • Plomp, A.S.1    Toonstra, J.2    Bergen, A.A.3
  • 26
    • 84855860969 scopus 로고    scopus 로고
    • Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
    • Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012;90:25-39
    • (2012) Am J Hum Genet , vol.90 , pp. 25-39
    • Nitschke, Y.1    Baujat, G.2    Botschen, U.3
  • 27
    • 84894079801 scopus 로고    scopus 로고
    • Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy - Genotypic overlap with pseudoxanthoma elasticum
    • Li Q, Brodsky JL, Conlin L, et al. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy - genotypic overlap with pseudoxanthoma elasticum. J Invest Dermatol 2014;134:658-65
    • (2014) J Invest Dermatol , vol.134 , pp. 658-665
    • Li, Q.1    Brodsky, J.L.2    Conlin, L.3
  • 28
    • 0034705145 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
    • Ringpfeil F, Lebwohl MG, Christiano AM, et al. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 2000;97:6001-6
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 6001-6006
    • Ringpfeil, F.1    Lebwohl, M.G.2    Christiano, A.M.3
  • 29
    • 0034123093 scopus 로고    scopus 로고
    • Mutations in ABCC6 cause pseudoxanthoma elasticum
    • Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000;25:228-31
    • (2000) Nat Genet , vol.25 , pp. 228-231
    • Bergen, A.A.1    Plomp, A.S.2    Schuurman, E.J.3
  • 30
    • 18844465976 scopus 로고    scopus 로고
    • Mutations in a gene encoding an ABCtransporter cause pseudoxanthoma elasticum
    • Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABCtransporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223-7
    • (2000) Nat Genet , vol.25 , pp. 223-227
    • Le Saux, O.1    Urban, Z.2    Tschuch, C.3
  • 31
    • 0033930195 scopus 로고    scopus 로고
    • Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
    • Struk B, Cai L, Zach S, et al. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med (Berl) 2000;78:282-6
    • (2000) J Mol Med (Berl) , vol.78 , pp. 282-286
    • Struk, B.1    Cai, L.2    Zach, S.3
  • 32
    • 84878714770 scopus 로고    scopus 로고
    • Mineralization/antimineralization networks in the skin and vascular connective tissues
    • Li Q, Uitto J. Mineralization/antimineralization networks in the skin and vascular connective tissues. Am J Pathol 2013;183:10-18
    • (2013) Am J Pathol , vol.183 , pp. 10-18
    • Li, Q.1    Uitto, J.2
  • 33
    • 77957941345 scopus 로고    scopus 로고
    • The abcc6a gene expression is required for normal zebrafish development
    • Li Q, Sadowski S, Frank M, et al. The abcc6a gene expression is required for normal zebrafish development. J Invest Dermatol 2010;130:2561-8
    • (2010) J Invest Dermatol , vol.130 , pp. 2561-2568
    • Li, Q.1    Sadowski, S.2    Frank, M.3
  • 34
    • 84897036427 scopus 로고    scopus 로고
    • Analysis of Pseudoxanthoma Elasticumcausing Missense mutants of ABCC6 in vivo; Pharmacological correction of the mislocalized proteins
    • Apr
    • Pomozi V, Brampton C, Fulop K, et al. Analysis of Pseudoxanthoma Elasticumcausing Missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins. J Invest Dermatol 2014;Apr;134(4):946-53
    • (2014) J Invest Dermatol , vol.134 , Issue.4 , pp. 946-953
    • Pomozi, V.1    Brampton, C.2    Fulop, K.3
  • 35
    • 84876143016 scopus 로고    scopus 로고
    • Generalized arterial calcification of infancy and pseudoxanthoma elasticum: Two sides of the same coin
    • Nitschke Y, Rutsch F. Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. Front Genet 2012;3:302
    • (2012) Front Genet , vol.3 , pp. 302
    • Nitschke, Y.1    Rutsch, F.2
  • 36
    • 73849096783 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6
    • Plomp AS, Bergen AA, Florijn RJ, et al. Pseudoxanthoma elasticum: wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. Genet Med 2009;11:852-8
    • (2009) Genet Med , vol.11 , pp. 852-858
    • Plomp, A.S.1    Bergen, A.A.2    Florijn, R.J.3
  • 37
    • 3042699640 scopus 로고    scopus 로고
    • Acquired disorders of elastic tissue: Part I. Increased elastic tissue and solar elastotic syndromes
    • Lewis KG, Bercovitch L, Dill SW, et al. Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes. J Am Acad Dermatol 2004;51:1-21
    • (2004) J Am Acad Dermatol , vol.51 , pp. 1-21
    • Lewis, K.G.1    Bercovitch, L.2    Dill, S.W.3
  • 38
    • 14144249809 scopus 로고    scopus 로고
    • Pseudoxanthoma-like lateonset focal dermal elastosis
    • Kossard S. Pseudoxanthoma-like lateonset focal dermal elastosis. Australas J Dermatol 2005;46:47-50
    • (2005) Australas J Dermatol , vol.46 , pp. 47-50
    • Kossard, S.1
  • 39
    • 0041410231 scopus 로고    scopus 로고
    • Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients
    • Hamlin N, Beck K, Bacchelli B, et al. Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. Br J Haematol 2003;122:852-4
    • (2003) Br J Haematol , vol.122 , pp. 852-854
    • Hamlin, N.1    Beck, K.2    Bacchelli, B.3
  • 40
    • 0018088374 scopus 로고
    • Salpeter-induced dermal changes electron-microscopically indistinguishable from pseudoxanthoma elasticum
    • Nielsen AO, Christensen OB, Hentzer B, et al. Salpeter-induced dermal changes electron-microscopically indistinguishable from pseudoxanthoma elasticum. Acta Derm Venereol 1978;58:323-7
    • (1978) Acta Derm Venereol , vol.58 , pp. 323-327
    • Nielsen, A.O.1    Christensen, O.B.2    Hentzer, B.3
  • 41
    • 76649095643 scopus 로고    scopus 로고
    • Familial tumoral calcinosis: From characterization of a rare phenotype to the pathogenesis of ectopic calcification
    • Sprecher E. Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol 2010;130:652-60
    • (2010) J Invest Dermatol , vol.130 , pp. 652-660
    • Sprecher, E.1
  • 42
    • 84868278414 scopus 로고    scopus 로고
    • Genetics in arterial calcification: Lessons learned from rare diseases
    • Nitschke Y, Rutsch F. Genetics in arterial calcification: lessons learned from rare diseases. Trends Cardiovasc Med 2012;22:145-9
    • (2012) Trends Cardiovasc Med , vol.22 , pp. 145-149
    • Nitschke, Y.1    Rutsch, F.2
  • 43
    • 16244364756 scopus 로고    scopus 로고
    • The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)
    • Ruf N, Uhlenberg B, Terkeltaub R, et al. The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Hum Mutat 2005;25:98
    • (2005) Hum Mutat , vol.25 , pp. 98
    • Ruf, N.1    Uhlenberg, B.2    Terkeltaub, R.3
  • 44
    • 80052153431 scopus 로고    scopus 로고
    • Genetics in arterial calcification: Pieces of a puzzle and cogs in a wheel
    • Rutsch F, Nitschke Y, Terkeltaub R. Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel. Circ Res 2011;109:578-92
    • (2011) Circ Res , vol.109 , pp. 578-592
    • Rutsch, F.1    Nitschke, Y.2    Terkeltaub, R.3
  • 45
    • 75149190148 scopus 로고    scopus 로고
    • An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy
    • Le Boulanger G, Labreze C, Croue A, et al. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A 2010;152A:118-23
    • (2010) Am J Med Genet A , vol.152 A , pp. 118-123
    • Le Boulanger, G.1    Labreze, C.2    Croue, A.3
  • 46
    • 43749088501 scopus 로고    scopus 로고
    • Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein
    • Chefetz I, Ben Amitai D, Browning S, et al. Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol 2008;128:1423-9
    • (2008) J Invest Dermatol , vol.128 , pp. 1423-1429
    • Chefetz, I.1    Ben Amitai, D.2    Browning, S.3
  • 48
    • 33847067547 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
    • Vanakker OM, Martin L, Gheduzzi D, et al. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol 2007;127:581-7
    • (2007) J Invest Dermatol , vol.127 , pp. 581-587
    • Vanakker, O.M.1    Martin, L.2    Gheduzzi, D.3
  • 49
    • 59649091261 scopus 로고    scopus 로고
    • Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: Compound heterozygosity for mutations in the GGCX gene
    • Li Q, Schurgers LJ, Smith AC, et al. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol 2009;174:534-40
    • (2009) Am J Pathol , vol.174 , pp. 534-540
    • Li, Q.1    Schurgers, L.J.2    Smith, A.C.3
  • 50
    • 23944489821 scopus 로고    scopus 로고
    • The vitamin K-dependent carboxylase
    • Berkner KL. The vitamin K-dependent carboxylase. Annu Rev Nutr 2005;25:127-49
    • (2005) Annu Rev Nutr , vol.25 , pp. 127-149
    • Berkner, K.L.1
  • 51
    • 34548779758 scopus 로고    scopus 로고
    • Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients
    • Gheduzzi D, Boraldi F, Annovi G, et al. Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients. Lab Invest 2007;87:998-1008
    • (2007) Lab Invest , vol.87 , pp. 998-1008
    • Gheduzzi, D.1    Boraldi, F.2    Annovi, G.3
  • 52
    • 84875843626 scopus 로고    scopus 로고
    • Vitamin Kdependent carboxylation of matrix GLAprotein: A crucial switch to control ectopic mineralization
    • Schurgers LJ, Uitto J, Reutelingsperger CP. Vitamin Kdependent carboxylation of matrix GLAprotein: a crucial switch to control ectopic mineralization. Trends Mol Med 2013;19:217-26
    • (2013) Trends Mol Med , vol.19 , pp. 217-226
    • Schurgers, L.J.1    Uitto, J.2    Reutelingsperger, C.P.3
  • 53
    • 45849111436 scopus 로고    scopus 로고
    • Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?
    • Borst P, van de Wetering K, Schlingemann R. Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery? Cell Cycle 2008;7:1575-9
    • (2008) Cell Cycle , vol.7 , pp. 1575-1579
    • Borst, P.1    Van De Wetering, K.2    Schlingemann, R.3
  • 54
    • 79951873279 scopus 로고    scopus 로고
    • Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6-/- mice, a model for pseudoxanthoma elasticum
    • Jiang Q, Li Q, Grand-Pierre AE, et al. Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Cell Cycle 2011;10:701-7
    • (2011) Cell Cycle , vol.10 , pp. 701-707
    • Jiang, Q.1    Li, Q.2    Grand-Pierre, A.E.3
  • 55
    • 79957919035 scopus 로고    scopus 로고
    • Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum
    • Brampton C, Yamaguchi Y, Vanakker O, et al. Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum. Cell Cycle 2011;10:1810-20
    • (2011) Cell Cycle , vol.10 , pp. 1810-1820
    • Brampton, C.1    Yamaguchi, Y.2    Vanakker, O.3
  • 56
    • 80755139715 scopus 로고    scopus 로고
    • Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum
    • Gorgels TG, Waarsing JH, Herfs M, et al. Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum. J Mol Med (Berl) 2011;89:1125-35
    • (2011) J Mol Med (Berl) , vol.89 , pp. 1125-1135
    • Gorgels, T.G.1    Waarsing, J.H.2    Herfs, M.3
  • 57
    • 82355180873 scopus 로고    scopus 로고
    • ABCC6 does not transport vitamin K3- glutathione conjugate from the liver: Relevance to pathomechanisms of pseudoxanthoma elasticum
    • Fülöp K, Jiang Q, Wetering KV, et al. ABCC6 does not transport vitamin K3- glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum. Biochem Biophys Res Commun 2011;415:468-71
    • (2011) Biochem Biophys Res Commun , vol.415 , pp. 468-471
    • Fülöp, K.1    Jiang, Q.2    Wetering, K.V.3
  • 58
    • 59449093562 scopus 로고    scopus 로고
    • Thirty-two month follow-up of successful treatment of choroidal neovascularization from angioid streaks with intravitreal bevacizumab
    • Kovach JL, Schwartz SG, Hickey M, et al. Thirty-two month follow-up of successful treatment of choroidal neovascularization from angioid streaks with intravitreal bevacizumab. Ophthalmic Surg Lasers Imaging 2009;40:77-9
    • (2009) Ophthalmic Surg Lasers Imaging , vol.40 , pp. 77-79
    • Kovach, J.L.1    Schwartz, S.G.2    Hickey, M.3
  • 59
    • 70349293649 scopus 로고    scopus 로고
    • Long-term results of intravitreal bevacizumab injection for choroidal neovascularization secondary to angioid streaks
    • Sawa M, Gomi F, Tsujikawa M, et al. Long-term results of intravitreal bevacizumab injection for choroidal neovascularization secondary to angioid streaks. Am J Ophthalmol 2009;148:584-90.e2
    • (2009) Am J Ophthalmol , vol.148
    • Sawa, M.1    Gomi, F.2    Tsujikawa, M.3
  • 60
    • 58349099619 scopus 로고    scopus 로고
    • Intravitreal bevacizumab (Avastin) treatment of choroidal neovascularisation in patients with angioid streaks
    • Wiegand TW, Rogers AH, McCabe F, et al. Intravitreal bevacizumab (Avastin) treatment of choroidal neovascularisation in patients with angioid streaks. Br J Ophthalmol 2009;93:47-51
    • (2009) Br J Ophthalmol , vol.93 , pp. 47-51
    • Wiegand, T.W.1    Rogers, A.H.2    McCabe, F.3
  • 61
    • 79951973556 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum, ocular manifestations, complications and treatment
    • Georgalas I, Tservakis I, Papaconstaninou D, et al. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom 2011;94:169-80
    • (2011) Clin Exp Optom , vol.94 , pp. 169-180
    • Georgalas, I.1    Tservakis, I.2    Papaconstaninou, D.3
  • 62
    • 0021749407 scopus 로고
    • Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity
    • Renie WA, Pyeritz RE, Combs J, et al. Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. Am J Med Genet 1984;19:235-44
    • (1984) Am J Med Genet , vol.19 , pp. 235-244
    • Renie, W.A.1    Pyeritz, R.E.2    Combs, J.3
  • 63
    • 24344480438 scopus 로고    scopus 로고
    • Targeted ablation of the Abcc6 gene results in ectopic mineralization of connective tissues
    • Klement JF, Matsuzaki Y, Jiang QJ, et al. Targeted ablation of the Abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol 2005;25:8299-310
    • (2005) Mol Cell Biol , vol.25 , pp. 8299-8310
    • Klement, J.F.1    Matsuzaki, Y.2    Jiang, Q.J.3
  • 64
    • 26444436944 scopus 로고    scopus 로고
    • Disruption of Abcc6 in the mouse: Novel insight in the pathogenesis of pseudoxanthoma elasticum
    • Gorgels TG, Hu X, Scheffer GL, et al. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet 2005;14:1763-73
    • (2005) Hum Mol Genet , vol.14 , pp. 1763-1773
    • Gorgels, T.G.1    Hu, X.2    Scheffer, G.L.3
  • 65
    • 67349122284 scopus 로고    scopus 로고
    • Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-)
    • LaRusso J, Li Q, Jiang Q, et al. Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-). J Invest Dermatol 2009;129:1388-94
    • (2009) J Invest Dermatol , vol.129 , pp. 1388-1394
    • Larusso, J.1    Li, Q.2    Jiang, Q.3
  • 66
    • 77954562710 scopus 로고    scopus 로고
    • Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum
    • Gorgels TG, Waarsing JH, de Wolf A, et al. Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum. J Mol Med (Berl) 2010;88:467-75
    • (2010) J Mol Med (Berl) , vol.88 , pp. 467-475
    • Gorgels, T.G.1    Waarsing, J.H.2    De Wolf, A.3
  • 67
    • 84865323991 scopus 로고    scopus 로고
    • Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-)
    • Jiang Q, Uitto J. Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-). Exp Dermatol 2012;21:694-9
    • (2012) Exp Dermatol , vol.21 , pp. 694-699
    • Jiang, Q.1    Uitto, J.2
  • 68
    • 25844521222 scopus 로고    scopus 로고
    • Oral phosphate binders in the treatment of pseudoxanthoma elasticum
    • Sherer DW, Singer G, Uribarri J, et al. Oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol 2005;53:610-15
    • (2005) J Am Acad Dermatol , vol.53 , pp. 610-615
    • Sherer, D.W.1    Singer, G.2    Uribarri, J.3
  • 69
    • 79959509616 scopus 로고    scopus 로고
    • A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticum
    • Yoo JY, Blum RR, Singer GK, et al. A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol 2011;65:341-8
    • (2011) J Am Acad Dermatol , vol.65 , pp. 341-348
    • Yoo, J.Y.1    Blum, R.R.2    Singer, G.K.3
  • 70
    • 84872465171 scopus 로고    scopus 로고
    • Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy
    • Otero JE, Gottesman GS, McAlister WH, et al. Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. J Bone Miner Res 2013;28:419-30
    • (2013) J Bone Miner Res , vol.28 , pp. 419-430
    • Otero, J.E.1    Gottesman, G.S.2    McAlister, W.H.3
  • 71
    • 82655184883 scopus 로고    scopus 로고
    • Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy
    • Edouard T, Chabot G, Miro J, et al. Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. Eur J Pediatr 2011;170:1585-90
    • (2011) Eur J Pediatr , vol.170 , pp. 1585-1590
    • Edouard, T.1    Chabot, G.2    Miro, J.3
  • 72
    • 84890275902 scopus 로고    scopus 로고
    • ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release
    • Jansen RS, Kucukosmanoglu A, de Haas M, et al. ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. Proc Natl Acad Sci USA 2013;110:20206-11
    • (2013) Proc Natl Acad Sci USA , vol.110 , pp. 20206-20211
    • Jansen, R.S.1    Kucukosmanoglu, A.2    De Haas, M.3
  • 73
    • 84895918999 scopus 로고    scopus 로고
    • Fibroblasts from patients affected by Pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli
    • Boraldi F, Annovi G, Bartolomeo A, et al. Fibroblasts from patients affected by Pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli. J Dermatol Sci 2014;74:72-80
    • (2014) J Dermatol Sci , vol.74 , pp. 72-80
    • Boraldi, F.1    Annovi, G.2    Bartolomeo, A.3
  • 74
    • 0031436252 scopus 로고    scopus 로고
    • Cloning and targeted deletion of the mouse fetuin gene
    • Jahnen-Dechent W, Schinke T, Trindl A, et al. Cloning and targeted deletion of the mouse fetuin gene. J Biol Chem 1997;272:31496-503
    • (1997) J Biol Chem , vol.272 , pp. 31496-31503
    • Jahnen-Dechent, W.1    Schinke, T.2    Trindl, A.3
  • 75
    • 77951090808 scopus 로고    scopus 로고
    • Overexpression of fetuin - A counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6-/-)
    • Jiang Q, Dibra F, Lee MD, et al. Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6-/-). J Invest Dermatol 2010;130:1288-96
    • (2010) J Invest Dermatol , vol.130 , pp. 1288-1296
    • Jiang, Q.1    Dibra, F.2    Lee, M.D.3
  • 76
    • 84887817786 scopus 로고    scopus 로고
    • Premature termination codon readthrough in the ABCC6 gene: Potential treatment for pseudoxanthoma elasticum
    • Zhou Y, Jiang Q, Takahagi S, et al. Premature termination codon readthrough in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum. J Invest Dermatol 2013;133:2672-7
    • (2013) J Invest Dermatol , vol.133 , pp. 2672-2677
    • Zhou, Y.1    Jiang, Q.2    Takahagi, S.3
  • 77
    • 80052827583 scopus 로고    scopus 로고
    • Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver
    • Le Saux O, Fülop K, Yamaguchi Y, et al. Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver. PLoS One 2011;6:e24738
    • (2011) PLoS One , vol.6
    • Le Saux, O.1    Fülop, K.2    Yamaguchi, Y.3
  • 78
    • 84871836431 scopus 로고    scopus 로고
    • Administration of bone marrow derived mesenchymal stem cells into the liver: Potential to rescue pseudoxanthoma elasticum in a mouse model (Abcc6-/-)
    • Jiang Q, Takahagi S, Uitto J. Administration of bone marrow derived mesenchymal stem cells into the liver: Potential to rescue pseudoxanthoma elasticum in a mouse model (Abcc6-/-). J Biomed Biotech 2012;2012:818937
    • (2012) J Biomed Biotech , vol.2012 , pp. 818937
    • Jiang, Q.1    Takahagi, S.2    Uitto, J.3
  • 79
    • 84872604868 scopus 로고    scopus 로고
    • A Philadelphia meeting talks treatment for a rare disease
    • Gaestel A. A Philadelphia meeting talks treatment for a rare disease. The Philadelphia Inquirer 2012. Available from: http://articles.philly.2012-07-15/ news/32675524-1-rare-diseases-mutantprotein-nih
    • (2012) The Philadelphia Inquirer
    • Gaestel, A.1
  • 80
    • 70449507812 scopus 로고    scopus 로고
    • Drug development for orphan diseases in the context of personalized medicine
    • Brewer GJ. Drug development for orphan diseases in the context of personalized medicine. Transl Res 2009;154:314-22
    • (2009) Transl Res , vol.154 , pp. 314-322
    • Brewer, G.J.1
  • 81
    • 76649116557 scopus 로고    scopus 로고
    • The mineralization phenotype in Abcc6 (-/-) mice is affected by Ggcx gene deficiency and genetic background - A model for pseudoxanthoma elasticum
    • Li Q, Uitto J. The mineralization phenotype in Abcc6 (-/-) mice is affected by Ggcx gene deficiency and genetic background-a model for pseudoxanthoma elasticum. J Mol Med (Berl) 2010;88:173-81
    • (2010) J Mol Med (Berl) , vol.88 , pp. 173-181
    • Li, Q.1    Uitto, J.2
  • 82
    • 84895880088 scopus 로고    scopus 로고
    • Mouse models for pseudoxanthoma elasticum: Genetic and dietary modulation of the ectopic mineralization phenotypes
    • Li Q, Guo H, Chou DW, et al. Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes. PLoS One 2013;9:e89268
    • (2013) PLoS One , vol.9
    • Li, Q.1    Guo, H.2    Chou, D.W.3
  • 83
    • 79960775459 scopus 로고    scopus 로고
    • Drug repositioning for orphan diseases
    • Sardana D, Zhu C, Zhang M, et al. Drug repositioning for orphan diseases. Brief Bioinform 2011;12:346-56
    • (2011) Brief Bioinform , vol.12 , pp. 346-356
    • Sardana, D.1    Zhu, C.2    Zhang, M.3
  • 84
    • 84885310771 scopus 로고    scopus 로고
    • Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-)
    • Guo H, Li Q, Chou DW, et al. Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-). J Mol Med (Berl) 2013;91:1177-84
    • (2013) J Mol Med (Berl) , vol.91 , pp. 1177-1184
    • Guo, H.1    Li, Q.2    Chou, D.W.3
  • 85
    • 84887057519 scopus 로고    scopus 로고
    • Pediatric pseudoxanthoma elasticum with cardiovascular involvement
    • Li Q, Baker J, Kowalczyk J, et al. Pediatric pseudoxanthoma elasticum with cardiovascular involvement. Br J Dermatol 2013;169:1148-51
    • (2013) Br J Dermatol , vol.169 , pp. 1148-1151
    • Li, Q.1    Baker, J.2    Kowalczyk, J.3


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