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

16 - Pseudoxanthoma elasticum

Summary

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.

History

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.

REFERENCES
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