Pseudoxanthoma elasticum - rare hereditary disease with coronary and organ calcifications (RCD code: I-2.A.0)

Branimir Kanazirev, D Konstantinova, G Tomov, S Kovachev

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Background: Pseudoxanthoma elasticum is a rare hereditary disease with estimated prevalence of 1 in 25,000 to 1 in 100,000 with cutaneous lesions and organ calcifications.

Methods and results: We report a case of a young female with a cutaneous manifestation of pseudoxanthoma elasticum. Calcium deposits were found in coronary arteries and major vessels as well as in the lung and liver by means of computer tomography (CT) assessment. No members of the family were found to have the disease, so it was considered a sporadic case.

Conclusion: Exceeding rare this cutaneous disease is associated with organ and vessels calcifications and is worth knowing as a rare cause for calcium depositions in the coronary arteries and potential myocardial ischemia or myocardial infarction in the very young. JRCD 2013; 1 (2): 42–45

Key words: pseudoxanthoma elasticum, coronary artery calcifications, cutaneous lesions, organ calcifications


pseudoxanthoma elasticum; coronary artery calcifications; cutaneous lesions; organ calcifications


Bercovitch L, Terry P. Pseudoxanthoma Elasticum 2004. J Am Acad Dermatol 2004; 51(1 Suppl.): S13–14.

Hu X, Plomp AS, van Soest A, et al. Pseudoxanthoma Elasticum: a clinical, histopathological and molecular update. Surv Ophthalmol 2003; 48: 424–438.

Bergen A, Plomp AS, Gorgels T, De Jong P. Van gen naarziekte; pseudoxanthoma elasticum en het ABCC6‑gen. Ned Tijdschr Geneeskd 2004; 148: 1586–1589.

Baccarani‑Contri M, Vincenzi D, Cicchetti F, et al. Immunochemical identification ofabnormal constituents in the dermis of pseudoxanthoma elasticum patients. Eur J Histochem 1994; 38: 111–123.

Longas MO, Wisch P, Lebwohl MG, Fleischmajer R. Glycosaminoglycans of skin and urine in pseudoxanthomaelasticum: evidence for chondroitin 6‑sulfate alteration. ClinChem Acta 1986; 155: 227–236.

Ilias A, Urban Z, Seidl T, et al. Loss of ATP‑dependent transport activity in Pseudoxanthoma Elasticum‑associated mutants of human ABCC6(MRP6). J BiolChem 2002; 277: 16860–16867.

Le Saux O, Beck K, Sachsinger C, et al. A spectrum of ABCC6 mutations is responsible for Pseudoxanthoma elasticum. Am J Hum Genet 2001; 69: 749–764.

Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause Pseudoxanthoma elasticum. Nat Genet 2000; 25: 223–227.

Bacchelli B, Quaglino D, Gheduzzi D, et al. Identification of heterozygote carriers in families with a recessive form of Pseudoxanthoma elasticum (PXE). Mod Pathol 1999; 12: 1112–1123.

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; 160: 773–775.

Wegman JJ, Hu X, Tan H, et al. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype. Int J Cardiol 2005; 100(3): 389–393.

Albertyn LE, Drew AC. Mammographically detected micro calcifications due to Pseudoxanthoma Elasticum.Australas Radiol 1990; 35: 81.

Crespi G, Derichi LE, Saffioti S. Sonographic detection of renal changes in Pseudoxanthoma Elasticum. Urol Radiol 1992; 13: 223–225.

Suarez MJ, Garcia JB, Orense M, et al. Sonographic aspects of Pseudoxanthoma Elasticum. Pediatr Radiol 1991; 21: 538.

Pinto K, Deogracias Pena R. Testicular calcifications in Pseudoxanthoma Elasticum. J Urol 2004; 171: 1898.

Lebwohl MG, DiStefano D, Prioleau PG, et al. Pseudoxanthoma elasticum and mitralvalve prolapse. N Engl J Med 1982; 307: 228–231.

Rubegni P, Mondillo S, De Aloe GB, et al. Mitral valve prolapse in healthy relatives of patients with familial pseudoxanthoma elasticum. Am J Cardiol 20 0 0; 85: 126 8 –1271.

Navarro‑Lopez F, Llorian A, Ferrer‑Roca O, et al. Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest 1980; 78: 113–115.

Lebwohl M, Halperin J, Phelps R. Brief report: occult Pseudoxanthoma elasticum in patients with premature cardiovascular disease. N Engl J Med 1993; 329: 1237–1239.

Alexopoulos D, Christodoulou J, Cokkinos DV, Vagenakis AG. Accelerated coronary artery disease in a young woman with pseudoxanthoma elasticum and elevated lipoprotein(s). Eur Heart J 1994; 14: 28–30.

Slade A, John R, Swanton R. Pseudoxanthoma elasticum presenting with myocardial infarction. Br Heart J 1990; 63: 372–372.

Kevorkian JP, Masquet C, Kural Ménasché S, et al. New report of severe coronary artery disease in an eighteen‑years old girl with pseudoxanthoma elasticum. Case reportandreview oftheliterature. Angiology 1997; 48: 735–744.

Nishida H, Endo M, Koyanagi H. Coronary artery bypass in a fifteen‑years‑old girl with pseudoxanthoma elasticum. Ann Thorac Surg 1990; 49: 483–485.

Iguro Y, Morishita Y, Shimokawa S, et al. A case of pseudoxanthoma elasticum underwent coronaryartery bypass grafting. Nippon Kyobu Gakkai Zasshi 1994; 42: 1977–1980.

Sarraj A, Al Homsi KF, Khouqeer F. Pseudoxanthoma elasticum of the internal mammary artery. Cardiovasc Surg 1999; 7: 381–384.

Baglini R, Sesana M, Capuano C, Battista G. Intracoronary ultrasound guided percutaneous coronary angioplasty using a drug eluting stent in a patient with pseudoxanthomaelasticum. Atherosclerosis 2005; 180: 205–207.

Sasai H, Sakakura K, Wada H, et al. Stiff Coronary Stenosis in a Young Female With Pseudoxanthoma Elasticum. J Am Coll Cardiol Intv 2012;



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