Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: Ultrasound findings in Belgian patients and healthy carriers

British Journal of Radiology

Volumn 79, Issue 939, 2006, Pages 221-225

  Vanakker, O M ^a   Voet, D ^a   Petrovic, M ^a   van Robaeys, F ^a   Leroy, B P ^a   Coucke, P ^a   de Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM;

ABDOMEN; ADULT; AGED; ARTICLE; BELGIUM; BLOOD SAMPLING; BREAST; CALCIUM BLOOD LEVEL; CANCER RISK; CLINICAL ARTICLE; ECHOGRAPHY; FAMILY HISTORY; FEMALE; FOLLOW UP; HETEROZYGOTE; HUMAN; IMAGE ANALYSIS; KIDNEY FUNCTION; LIVER FUNCTION; MALE; PHENOTYPE; PSEUDOXANTHOMA ELASTICUM; RISK ASSESSMENT; SOFT TISSUE CALCIFICATION; SPLEEN; TESTIS DISEASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CALCINOSIS; HETEROZYGOTE; HUMANS; KIDNEY DISEASES; LIVER DISEASES; MALE; MIDDLE AGED; PHENOTYPE; PSEUDOXANTHOMA ELASTICUM; SPLENIC DISEASES; TESTICULAR DISEASES; VISCERA;

EID: 33644945857     PISSN: 00071285     EISSN: None     Source Type: Journal    
DOI: 10.1259/bjr/20801330     Document Type: Article

References (37)

1. Bercovitch L, Terry P. Pseudoxanthoma Elasticum 2004. J Am Acad Dermatol 2004;51(1 Suppl.):S13-4.
2. Hu X, Plomp AS, van Soest A, Wijnholds J, de Jong PTVM, Bergen A, et al. Pseudoxanthoma Elasticum: a clinical, histopathological and molecular update. Surv Ophthalmol 2003;48:424-38.
3. Neldner KH. Pseudoxanthoma Elasticum. Clin Dermatol 1988;6:83-92.
4. Scherer DW, Sapadin AN, Lebwohl MG. Pseudoxanthoma Elasticum: an update. Dermatology 1999;199:3.
5. Ringpfeil F. Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa and lipoid proteinosis. Clin Dermatol 2005;23:41-6.
6. Bergen A, Plomp AS, Gorgels T, De Jong P. Van gen naar ziekte; pseudoxanthoma elasticum en het ABCC6-gen. Ned Tijdschr Geneeskd 2004;148:1586-9.
7. Baccarani-Contri M, Vincenzi D, Cicchetti F, Mori G, Pasquali-Ronchetti I. Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients. Eur J Histochem 1994;38:111-23.
8. Longas MO, Wisch P, Lebwohl MG, Fleischmajer R. Glycosaminoglycans of skin and urine in pseudoxanthoma elasticum: evidence for chondroitin 6-sulfate alteration. Clin Chem Acta 1986;155:227-36.
9. Ilias A, Urban Z, Seidl T, Le Saux O, Sinko E, Boyd C, et al. Loss of ATP-dependent transport activity in Pseudoxanthoma Elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem 2002;277:16860-7.
10. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HHH, et al. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet 2001;69:749-64.
11. Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223-7.
12. Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B, et al. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). Mod Pathol 1999;12:1112-23.
13. Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JMA, ten Brink JB, et al. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 2002;160:773-5.
14. van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AAB. A locus for autosomal recessive Pseudoxanthoma Elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res 1997;7:830-4.
15. Albertyn LE, Drew AC. Mammographically detected microcalcifications due to Pseudoxanthoma Elasticum. Australas Radiol 1990;35:81.
16. Crespi G, Derichi LE, Saffioti S. Sonographic detection of renal changes in Pseudoxanthoma Elasticum. Urol Radiol 1992;13:223-5.
17. Ekim M, Tümer N, Atmaca L, Anadolu R, Salih M, Dönmez O, et al. Pseudoxanthoma elasticum: a rare cause of hypertension in children. Pediatr Nephrol 1998;12:183-5.
18. Erden A, Dumanli H, Yardimci C, Erden I, Aytaç S. Ultrasound and color flow Doppler manifestations of Pseudoxanthoma Elasticum. J Clin Ultrasound 1993;21:396-8.
19. Korn S, Scilnacht J, Huth C, Feller AM. Cardiovascular manifestations of pseudoxanthoma elasticum (Grönblad-Strandberg Syndrome). Thorac Cardiovasc Surg 1987;35:191-4.
20. Ortiz Gorraiz MA, Casares Aria A, Tallada Bunuel M, Vicente Prados FJ, Honrubia Vilchez B, Fernandez Sanchez A. Urologic findings in pseudoxanthoma elasticum: report one case. Actas Urol Esp 2005;29:96-9.
21. Suarez MJ, Garcia JB, Orense M, Raimunde E, Lopez MV, Fernandez O. Sonographic aspects of Pseudoxanthoma Elasticum. Pediatr Radiol 1991;21:538.
22. Pinto K, Deogracias Pena R. Testicular calcifications in Pseudoxanthoma Elasticum. J Urol 2004;171:1898.
23. Dell'Acqua A, Toma P, Oddone M, Ciccone MA, Marsili E, Derci LE. Testicular microlithiasis: US findings in six pediatric patients and literature review. Eur Radiol 1999;9:940-5.
24. Bushby LH, Miller FNAC, Rosairo S, Clarke JL, Sidhu PS. Scrotal calcification: ultrasound appearances, distribution and aetiology. Br J Radiol 2002;75:283-8.
25. Ganem JP. Testicular microlithiasis. Curr Opin Urol 2000;10:99.
26. Lawrentschuk N, Brough SJS, De Ryke RJ. Testicular microlithiasis: a case report and review of the literature. Aus NZ J Surg 2003;73:364-6.
27. Miller FNAC, Sidhu PS. Does testicular microlithiasis matter? A review. Clin Radiol 2002;57:883-90.
28. Akin EA, Khati NJ, Hill MC. Ultrasound of the scrotum. Ultrasound Q 2004;20:181-200.
29. Ganem JP, Workman KR, Shaban SF. Testicular microlithiasis is associated with testicular pathology. Urology 1999;53:209-13.
30. Kocaoǧlu M, Bozlar U, Bulakbaşi N, Saǧlam M, Üçöz T, Somuncu I. Testicular microlithiasis in pediatric age group: ultrasonography findings and literature review. Diagn Interv Radiol 2005;11:60-5.
31. Miller RL, Wissman R, White S, Ragosin R. Testicular microlithiasis: a benign condition with a malignant association. J Clin Ultrasound 1996;24:197-202.
32. Parra BL, Venable DD, Gonzalez LL, Eastham JA. Testicular microlithiasis is a predictor of intratubular germ cell tumor. AJR Am J Roentgenol 1996;167:889-90.
33. Pourbagher MA, Kilinc F, Guvel S, Pourbagher A, Egilmez T, Ozkardes H. Follow-up of testicular microlithiasis for subsequent testicular cancer development. Urol Int 2005;74:108-12.
34. Rashid HH, Cos LR, Weinberg E, Messing EM. Testicular microlithiasis: a review and its association with testicular cancer. Urol Oncol 2004;22:285-9.
35. Ringdahl E, Claybrook K, Teague JL, Northrup M. Testicular microlithiasis and its relation to testicular cancer on ultrasound findings of symptomatic men. J Urol 2004;172:1904-6.
36. Winter TC, Zunkel DE, Mack LA. Testicular carcinoma in a patient with previously demonstrated testicular microlithiasis. J Urol 1996;166:889-96.
37. Nistal M, Garcia-Cabezas MA, Regadera J, Castillo MC. Microlithiasis of the epididymis and the rete testis. Am J Surg Pathol 2004;28:514-22.