Pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue with many systemic manifestations. The disease varies widely in its degree of expression and inheritance patterns and is believed to be considerably underdiagnosed due to lack of familiarity with the condition among physicians. The purpose of this article was to provide an update on important topics in PXE. Common presentations of the disease as well as the histopathology are discussed. The genetics of PXE as well as the importance of early diagnosis and genetic counseling are addressed. Special areas of concern, such as PXE in childhood, are reviewed. Finally, the article concludes with management of the disease and current areas of research.

Keywords:
Pseudoxanthoma, Cardiac disorder, Genodermatoses
1.
Rigal D: Observations pour servir à l’histoire de la chéloïde diffuse xantholasmique. Ann Dermatol Syphiligr 1881;2:491–495.
2.
Darier J: Pseudoxanthoma elasticum. Monatsschr Prakt Dermatol 1896;23:609–614.
3.
Gronblad E: Angioid streaks-pseudoxanthoma elasticum: vorläufige Mitteilung. Acta Ophthalmol 1929;7:329–334.
4.
Pope FM: Autosomal dominant pseudoxanthoma elasticum. J Med Genet 1974;11:152– 157.
5.
Pope FM: Two types of autosomal recessive pseudoxanthoma elasticum. Arch Dermatol 1974;110:209–212.
6.
Neldner KH: Pseudoxanthoma elasticum. Clin Dermatol 1988;6:1–159.
7.
Engelman MW, Fliegelman MT: Pseudoxanthoma elasticum. Cutis 1978;21:837–840.
8.
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.
9.
Sapadin AN, Lebwohl MG, Teich SA, Phelps RG, DiCostanzo D, Cohen SR: Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks – Apparent regression with hemodialysis. J Am Acad Dermatol 1998;39:338–344.
10.
Dymock RB: Pseudoxanthoma elasticum: Report of a case with reno-vascular hypertension. Aust J Dermatol 1979;20:82–84.
11.
Schachner L, Young D: Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child 1974;127:571–575.
12.
Suarez MJ, Garcia JB, Orense M, Raimunde E, Lopez MV, Fernandez O: Sonographic aspects of pseudoxanthoma elasticum. Pediatr Radiol 1991;21:538–539.
13.
Gubler MC, Antignac C, Broyer M, Garel L, Lenoir G, Niaudet P, Dechaux M, Habib R: Diffuse arterial calcified elastopathy – A new cause of renovascular hypertension in children. Int J Pediatr Nephrol 1985;6:47–54.
14.
Ekim M, Tumer N, Atmaca L, Anadolu R, Salih M, Donmez O, Ozkaya N: Pseudoxanthoma elasticum: A rare cause of hypertension in children. Pediatr Nephrol 1998;12:183–185.
15.
Darmstadt GL, Lane A: Disease of the dermis; in Nelson WE, Behrman RE, Kliegman RM, Arvin AM (eds): Textbook of Pediatrics, ed 15. Philadelphia, Saunders, 1996, pp 1873–1878.
16.
Navarro-Lopez F, Llorian A, Ferrer-Roca O, Betriu A, Sanz G: Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest 1980;78: 113–115.
17.
Huang S, Kumar G, Steele HD, Parker JO: Cardiac involvement in pseudoxanthoma elasticum: Report of a case. Am Heart J 1967;74: 680–686.
18.
Kundrotas L, Novak J, Kremzier J, Meenaghan M, Hassett J: Gastric bleeding in pseudo-xanthoma elasticum. Am J Gastroenterol 1988;8: 868–872.
19.
McKusick VA: Pseudoxanthoma elasticum; in Heritable Disorders of Connective Tissue. St Louis, Mosby, 1972, pp 475–520.
20.
Pope FM: Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 1975;92:493–509.
21.
Roberts WC, Dangel JC, Bulkley BH: Non-rheumatic valvular cardiac disease: A clinicopathologic survey of 27 different conditions causing valvular dysfunction. Cardiovasc Clin 1973;5:334–446.
22.
Huang, SN, Steele HD, Kumar G, Parker JO: Ultrastructural changes of elastic fibers in pseudoxanthoma elasticum: A study of histogenesis. Arch Pathol 1967;83:108–113.
23.
Otkjaer-Nielsen A, Johnson E, Hentzer B, Danielsen L, Carlsen F: Apatite crystals in pseudoxanthoma elasticum: A combined study using electron microscopy and selected area diffraction analysis. J Invest Dermatol 1977;69: 376–378.
24.
Calap J, Mascaro JM, Alonso J: Scanning electron microscopic and X ray microanalysis study of the mineral deposits in pseudoxanthoma elasticum. Arch Dermatol Res 1977;259:91–96.
25.
Viljoen DL, Beighton P, Mabin T, Woods K, Saxe N, Bonafede P: Pseudoxanthoma elasticum in South Africa – Genetic and clinical implications. S Afr Med J 1984;66:813–816.
26.
Lebwohl M, Neldner K, Pope FM, de Paepe A, Christiano AM, Boyd CD, Uitto J, McKusick VA: Classification of pseudoxanthoma elasticum: Report of a consensus conference. J Am Acad Dermatol 1994;30:103–107.
27.
Yoles A, Phelps R, Lebwohl M: Pseudoxanthoma elasticum and pregnancy. Cutis 1996;58: 161–164.
28.
Smith JGJ, Davidson EA, Clark RD: Dermal elastin in actinic elastosis and pseudoxanthoma elasticum. Nature 1962;195:716–717.
29.
Fazio MJ, Mattei M, Passage E, Chu M, Black D, Solomon E, Davidson JM, Uitto J: Human elastin gene: New evidence for localization to the long arm of chromosome 7. Am J Hum Genet 1991;48:696–703.
30.
Raybould MC, Birley AJ, Moss C, Hulten M, McKeown C: Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family. Clin Genet 1994;45:48–51.
31.
Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K: Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet 1997;6:1823–1828.
32.
Lebwohl M, Phelps RG, Yannuzzi LA, Chang S, Schwartz I, Fuchs W: Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med 1987;17:347–350.
33.
Coffman JD, Sommers SC: Familial pseudoxanthoma elasticum and valvular heart disease. Circulation 1959;19:242–250.
34.
Hubler WR: Two cases of pseudoxanthoma elasticum. Arch Dermatol Syphilol 1944;50: 51–52.
35.
Zlotogora J: Recessive or dominant? Reclassification in the molecular age. Clin Genet 1998; 54(suppl 1):41–43.
36.
Danielsen L, Kobayasi T: Pseudoxanthoma elasticum: An ultrastructural study of scar tissue. Acta Derm Venereol 1974;54:121–128.
37.
Altman LK, Fialkow PJ, Parker F, Sagebiel RW: Pseudoxanthoma elasticum: An under-diagnosed genetically heterogeneous disorder with protean manifestations. Arch Intern Med 1974;134:1048–1054.
38.
chwartz R: Cardiovascular pseudoxanthoma elasticum (letter). Arch Dermatol 1978;114: 1400.
39.
Lebwohl M, Halperin J, Phelps R: Occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. N Engl J Med 1993;329:1237–1239.
40.
Rosenzweig BP, Guarneri E, Kronzon I: Echocardiographic manifestations in a patient with pseudoxanthoma elasticum. Ann Intern Med 1993;119:487–490.
41.
Navarro-Lopez F, Llorian A, Ferrer-Roca O, Betriu A, Sanz G: Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest 1980;78: 113–115.
42.
Garel LA, Pariente DM, Gubler MC, Broyer M, Sauvegrain JH: The dotted corticomedullary junction: A sonographic indicator of small-vessel disease in hypertensive children. Radiology 1984;152:419–422.
43.
Hacker SM, Ramos-Carp FA, Beers BB, Flowers FP: Juvenile pseudoxanthoma elasticum: Recognition and management. Pediatr Dermatol 1993;10:19–25.
44.
Vilioen DL, Bloch C, Beighton P: Plastic surgery in pseudoxanthoma elasticum: Experience in nine patients. Plast Reconstr Surg 1990; 85:233–238.
45.
Woo TY, Rasmussen JE: Disorders of transepidermal elimination. Part 2. Int J Dermatol 1985; 24:337–348.
46.
Connor PJ, Juergens JI, Perry HO, Hollenhorst RW, Edwards JE: Pseudoxanthoma elasticum and angioid streaks: A review of 106 cases. Am J Med 1961;30:537–543.
47.
Reeve EB, Neldner KH, Subryan V, Gordon SG: Development and calcification of skin lesions in thirty-nine patients with pseudoxanthoma elasticum. Clin Exp Dermatol 1979;4: 291–301.
48.
Renie WA, Pyeritz RE, Combs J, Fine SL: Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity. Am J Med Genet 1984;19:235–244.
49.
Sandberg LB, Soskel NT, Leslie JG: Elastin structure, biosynthesis, and relation to disease states. N Engl J Med 1981;304:506–519.
50.
Vital and Health Statistics. Series 11:202. Rockville, National Center for Health Statistics, Division of Health Examination Statistics, 1977.
51.
Eddy D, Farber IM: Pseudoxanthoma elasticum. Arch Dermatol 1962;86:729–740.
52.
Gunja-Smith Z, Boucek RJ: Desmosines in human urine. Biochem J 1981;193:915–918.
53.
Jurzyk RS, Ditre CM, Kantor GR, Spielvogel RL: Plaque-type intertriginous cutaneous calcification. Cutis 1992;49:289–291.
1999
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.