63
Views
67
CrossRef citations to date
0
Altmetric
Research Article

Extracutaneous Ultrastructural Alterations in Pseudoxanthoma Elasticum

, , , , , & show all
Pages 375-384 | Published online: 10 Jul 2009

References

  • Neldner KH, Struk B. Pseudoxanthoma elasticum. In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects. New York: Wiley-Liss; 2002:561–583.
  • Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Gen. 2000; 25:228–231.
  • Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Gen. 2000;25:223–227.
  • Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA. 2000;97:6001–6006.
  • Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med. 2001; 7:13–17.
  • Danielsen L, Kobayasi T. Pseudoxanthoma elasticum: an ultrastructural study of oral lesions. Acta Derm Venereol (Stockholm). 1974;54:173–176.
  • Ross R, Fialkow PJ, Altman LK. Fine structure alterations of elastic fibers in pseudoxanthoma elasticum. Clin Gen. 1978;13:213–223.
  • Pasquali Ronchetti I, Volpin D, Baccarani Contri M, Castellani I, Peserico A. Pseudoxanthoma elasticum: biochemical and ultrastructural study. Dermatologica. 1981;163:307–326.
  • Martinez-Hernandez A, Huffer WE. Pseudoxanthoma elasticum: dermal polyanions and the mineralization of elastic fibers. Lab Invest. 1974;31:181–186.
  • Pasquali Ronchetti I, Baccarani Contri M, Pincelli C, Bertazzoni MG. Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: an ultrastructural study. Arch Dermatol Res. 1986;278:386–392.
  • Tiozzo Costa R, Baccarani Contri M, Cingi MR, et al. Pseudoxanthoma elasticum (PXE): ultrastructural and biochemical study on proteoglycan and proteoglycan-associated material produced by skin fibroblasts in vitro. Collagen Rel Res. 1988;8:49–64.
  • Passi A, Albertini R, Baccarani-Contri M, et al. Proteoglycan alterations in skin fibroblast cultures from patients affected with Pseudoxanthoma elasticum. Cell Biochem Funct. 1996;14:111–120.
  • Quaglino D, Boraldi F, Barbieri D, Croce A, Tiozzo R, Pasquali Ronchetti I. Abnormal phenotype of in vitro dermal fibroblasts from patients with pseudoxanthoma elasticum (PXE). Biochim Biophys Acta. 2000;1501:51–62.
  • Crespi G, Derchi LE, Saffioti S. Sonographic detection of renal changes in pseudoxanthoma elasticum. Urol Radiol. 1992;13:223–225.
  • Danielsen L, Kobayasi T. Internal elastic lamina of gastric arteries in pseudoxanthoma elasticum: ultrastructural studies. Acta Pathol Microbiol Scand. 1972;80:697–704.
  • Blumenkrantz N, Danielsen L, Asboe-Hansen G. Biosynthesis of collagen in pseudoxanthoma elasticum. Acta Derm Venerol (Stockholm). 1973;53:429–434.
  • Altman LK, Fialkow PJ, Parker F, Sagebiel RW. Pseudoxanthoma elasticum: an underdiagnosed genetically heterogeneous disorder with protean manifestations. Arch Intern Med. 1974;134:1048–1054.
  • Yap EY, Gleaton MS, Buettner H. Visual loss associated with pseudoxanthoma elasticum. Retina. 1992;12:315–319.
  • Coleman K, Rose MH, McCabe M, Coleman R, Mooney D. Disk drusen and angioid streaks in pseudoxanthoma elasticum. Am J Ophthalmol. 1991;112:166–170.
  • Schachner L, Young D. Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child. 1974;127:571–575.
  • Mendelsohn G, Bulkley BH, Hutchins GM. Cardiovascular manifestations of pseudoxanthoma elasticum. Arch Pathol Lab Med. 1978;102:298–302.
  • Slade AK, John RM, Swanton RH. Pseudoxanthoma elasticum presenting with myocardial infarction. Br Heart J. 1990;63:372–373.
  • Nolte KB. Sudden cardiac death owing to pseudoxanthoma elasticum: a case report. Hum Pathol. 2000;31:1002–1004.
  • Lebwohl M, Distefano D, Prioleau PG, Uram M, Yannuzzi LA, Fleischmajer R. Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med. 1982;307:228–231.
  • Kito K, Kobayashi N, Mori N. Ruptured aneurysm of the anterior spinal artery associated with PXE: a case report. J Neurosurg. 1983;58:126.
  • Stoebner P, Dupuy M, Lebranchu Y, Couderc P. Lesions arterielles du pseudoxanthome elastique: a propos d’un cas avec analyse X. Ann Med Reims. 1976;13:143–145.
  • Van Den Berg JS, Hennekam RC, Cruysberg JR, et al. Prevalence of symptomatic intracranial aneurism and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis. 2000; 10:315–319.
  • Fornieri C, Quaglino D, Mori G. Role of the extracellular matrix in age-related modifications of the rat aorta: ultrastructural, morphometric, and enzymatic evaluations. Arterioscler Thromb. 1992;2:1008–1016.
  • Costopanagiotou E, Spyrou S, Farantos C, Kostopanagiotou G, Smyrniotis V. An unusual cause of massive gastric bleeding in a young patient. Am J Gastroenterol. 2000;95:2400–2401.
  • Morgan AA. Recurrent gastrointestinal hemorrhage: an unusual cause. Am J Gastroenterol. 1982;77:925–928.
  • Spinzi G, Strocchi E, Imperiali G, Sangiovanni A, Terruzzi V, Minoli G. Pseudoxanthoma elasticum: a rare cause of gastrointestinal bleeding. Am J Gastroenterol. 1996;1:1631–1634.
  • Poliner IJ. Pseudoxanthoma elasticum and gastrointestinal bleeding. J Maine Med Assoc. 1967;58:76–77.
  • Cocco AE, Grayer DI, Walker BA, Martyn LJ. The stomach in pseudoxanthoma elasticum. JAMA. 1969;210:2381–2382.
  • Rosenbusch G, Fennis JFM, Strijk SP, van Haelst VJ. Gastrointestinal bleeding and vascular calcifications in pseudoxanthoma elasticum. ROFO Fortschr Geb Rontgenstr Nuklearmed. 1977;127:555–559.
  • Camilleri M, Chadwick VS, Hodgson HJ. Vascular anomalies of the gastrointestinal tract. Hepatogastroenterology. 1984;31:149–153.
  • Kundrotas L, Novak J, Kremzier J, Meenaghan M, Hassett J. Gastric bleeding in pseudoxanthoma elasticum. Am J Gastroenterol. 1988;83:868–872.
  • Mamtora H, Cope V. Pulmonary opacities in pseudoxanthoma elasticum: report of two cases. Br J Radiol. 1981;54:65–67.
  • Puvaneswary M. Pulmonary radiologic changes in pseudoxanthoma elasticum. Australas Radiol. 1986; 30: 310–312.
  • Jackson A, Loh CL. Pulmonary calcification and elastic tissue damage in pseudoxanthoma elasticum. Histopathology. 1980;4:607–611.
  • Kool M, van der Linden M, de Haas M, Baas F, Borst P. Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. Cancer Res. 1999;59:175–182.
  • Madon J, Hagenbuch B, Landmann L, Meier PJ, Stieger B. Transport function and hepatocellular localization of mrp6 in rat liver. Mol Pharmacol. 2000;57:634–641.
  • Scheffer GL, Hu X, Pijnenborg ACLM, Wijnholds J, Bergen AAB, Scheper RJ. MRP6 (ABCC6) detection in normal human tissues and tumors. Lab Invest. 2002;82:515–518.
  • Bozaldi F, Quaglino D, Croce MA, et al. Multidrug resistance protein-G(MRPG) in human dermal fibroblasts. Comparison between cells from normal subjects and from pseudoxanthoma elasticum patients. Matrix Biol. 2003, in press.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.