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  • Print publication year: 2004
  • Online publication date: July 2009

16 - Pseudoxanthoma elasticum


Pseudoxanthoma elasticum (PXE) is a hereditary connective tissue disorder characterized by disintegration and calcification of elastic fibers. Abnormal elastic fibers in the skin, retina, and cardiovascular system produce characteristic manifestations in these areas. Life expectancy is not dramatically reduced. The prevalence of PXE is estimated to be about 1 in 75 000, but this may be a low estimate because many cases go undiagnosed.


The first clinical description of PXE was by Balzer in 1884, although he did not recognize the basic pathology of calcifying elastic fibers and proposed instead that the disorder was a xanthoma (Balzer, 1884). Balzer's patient and others were reviewed by Darier, who performed microscopic examinations of the skin lesions and found mineralization of the elastic fibers rather than the xanthoma suggested by Balzer. To stress the absence of a xanthomatous process, Darier in 1896 coined the term ‘pseudoxanthoma’ and added ‘elasticum’ to identify the anatomic site of the pathology (Darier, 1896).

It took another 40 years to complete the triad. Angioid streaks had been defined by Doyne (1889) and Knapp (1892) but were not associated with PXE. Grönblad (1929) and Strandberg (1929) first recognized the retinal complications as a feature of PXE, and, in 1944, Carlborg described the cardiovascular aspects of PXE, thus completing the triad. Pseudoxanthoma elasticum has remained the title of choice in the world literature, perhaps because the abbreviation PXE is easy to remember. The eponymic Grönblad–Strandberg syndrome is still occasionally used in Europe.

Balzer, F. (1884). Recherches sur les caractères anatomiques du xanthelasma. Archives of Physiology, 4: 65–80
Bergen, A. A., Plomp, A. S., Schuurman, E. J. et al. (2000). Mutations in ABCC6 cause pseudoxanthoma elasticum. Nature Genetics, 25: 228–231
Carlborg, U. & Grönblad, E. (1944). The incidence of arteriosclerosis in pseudoxanthoma elasticum. Acta Medica Scandinavica, 308: 37–38
Christensen, O. B. (1964). An exogenous variety of pseudoxanthoma elasticum in old farmers. Acta Dermatologica, 89: 360–363
Coatesworth, A. P., Darnton, S. J., Green, R. M. & Cayton, R. M.Antonakopoulos, G. N. (1998). A case os systemic pseudo-pseudoxanthoma elasticum caused by long-term penicillamine use. Journal of Clinical Pathology, 51: 169–171
Darier, J., (1896). Pseudo-xanthome élastique. IIIe Congrès Internationale de Dermatologie de Londres, London, England
Dixon, J. M. (1951). Angioid streaks and pseudoxanthoma elasticum with aneurysm of the internal carotid artery. American Journal of Ophthalmology, 34: 1322–1323
Doyne, R. W. (1889). Choroidal and retinal changes; the result of blows on the eyes. Transactions of the Ophthalmology Society of the United Kingdom, 9: 128–129
Eddy, D. D. & Farber, E. M. (1962). Pseudoxanthoma elasticum. Internal manifestations. Archives of Dermatology, 86: 729–740
Grönblad, E. (1929). Angioid streaks–pseudoxanthoma elasticum. ActaOphthalmologica, 7: 329
Heaton, R. K., Vogt, A. T., Neldner, K. H. & Reeve, E. B. (1978). Neuropsychological findings with pseudoxanthoma elasticum. Acta Medica Scandinavica, 203: 215–221
Hicks, J., Carpenter, C. L. & Reed, R. J. (1979). Perumbilical perforating pseudoxanthoma elasticum. Archives of Dermatology, 115: 300–303
Iqbal, A., Alter, M., & Lee, S. H., (1978). Pseudoxanthoma elasticum: a review of neurological complications. Annals of Neurology, 4: 18–20
Kito, K., Kobayashi, N., Mori, N. & Kohno, H. (1983). Ruptured aneurysm of the anterior spinal artery associated with pseudoxanthoma elasticum. Journal ofNeurosurgery, 58: 126–128
Knapp, H. (1892). On the formation of dark angioid sreaks as an unusual metamorphosis of retinal hemorrhage. Archives of Ophthalmology, 21: 289–292
Saux, O., Urban, Z., Tschuch, C. et al. (2000). Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nature Genetics, 25: 223–227
Lebwohl, M. G., Distefano, D., Prioleau, P. G., Uram, M., Yannuzzi, L. A. & Fleischmajer, R. (1982). Pseudoxanthoma elasticum and mitral-valve prolapse. New England Journal of Medicine, 307: 228–231
Lebwohl, M., Halperin, J. & Phelps, R. G. (1993). Occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. New England Journal ofMedicine, 329: 1237–1239
Munyer, T. P. & Margulis, A. R. (1981). Pseudoxanthoma elasticum with internal carotid artery aneurysm. American Journal of Roentgenology, 136: 1023–1029
Neldner, K. H. (1988). Pseudoxanthoma elasticum. Clinics in Dermatology, 6: 1–159
Neldner, K. H. & , Martinez-Hernandez A. (1979). Localized acquired cutaneous pseudoxanthoma elasticum. Journal of the American Academy of Dermatology, 1: 523–530
Nolte, K. B. (2000). Sudden cardiac death owing to pseudoxanthoma elasticum: a case report. Human Pathology, 31: 1002–1004
Prick, J. J. G. & Thijssen, H. O. M. (1977). Radiodiagnostic signs in pseudoxanthoma elasticum generalisatum (dysgenesis elastofibrillaris mineralisans). Clinics in Radiology, 28: 549–554
Renie, W. A., Pyeritz, R. E., Coombs, J. & Fine, J. L. (1984). Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. AmericanJournal of Medical Genetics, 19: 235–244
Ringpfeil, F., Lebwohl, M. G., Christiano, A. M. & Uitto, J. (2000). Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP binding cassette (ABC) transporter. Proceedings of the National Academy of Sciences, USA, 97: 6001–6006
Rios-Montenegro, E. N., Behrens, M. M. & Hoyt, W. F. (1972). Pseudoxanthoma elasticum. Association with bilateral carotid rete mirabile and unilateral carotid-cavernous sinus fistula. Archives of Neurology, 26: 151–155
Scheie, H. G. & Hogan, T. F. (1957). Angioid streaks and generalized arterial disease. Archives of Ophthalmology, 57: 855–868
Sharma, N. G. K., Ghosh, S. I., Beohar, P. C. & Gupta, P. S. (1974). Subarachnoid haemorrhage in pseudoxanthoma elasticum. Postgraduate Medical Journal, 50: 774–776
Spinzi, G., Strocchi, E., Imperiali, G., Sangiovanni, A., Terruzzi, V. & Minoli, G. (1996). Pseudoxanthoma elasticum: a rare cause of gastrointestinal bleeding. American Journal of Gasterenterology, 91: 1631–1634
Strandberg, J. (1929). Pseudoxanthoma elasticum. Zeitschrift Haut Geschlechtskrankheiten, 31: 689–694
Struk, B., Neldner, K. H., Rao, V. S., St Jean, P. & , Linpaintner K. (1997). Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Human Molecular Genetics, 6: 1823–1828
Struk, B., Cai, L., Zach, S. et al. (2000). Mutations of the gene encoding the transmembrane transporter protein ABCC6 cause pseudoxanthoma elasticum. Journal of Molecular Medicine, 78: 282–286