THE OFFICAL BEGINNINGS OF PXE:
A CENTENNIAL OBSERVATION

Part I of a Two-part Series:
THE FIRST 100 YEARS OF PXE

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By:   K. H. Neldner, MD

This year marks an anniversary particularly relevant to those of us with PXE. It is the 100th birthday of the describing and naming of PXE.

It was 100 years ago this year that pseudoxanthoma elasticum came into official being, given its birth by Jean Darier, a French physician.

There are birthdays and then there are birthdays! When we are young, birthdays are cause for celebration. As we age, we greet them less enthusiastically. When we become what children term “really old,” we are quite happy to have made it to another birthday and the celebration becomes a momentous occasion. Celebrations are festive occasions. But the birthday we are talking about here is not a cause for celebration; it is, in fact, one we might wish to ignore. It is a birth we could have done better without.

Still, we take notice of this event in our history and commemorate its anniversary. It is, after all, that which shapes our lives.

Official Beginnings

PXE. That is what we call pseudoxanthoma elasticum so as not to tire our tongues. We are, in this year of 1996, commemorating the centennial year of its official beginnings.

It was in August of 1896, at the meeting of the Third International Congress of Dermatology, in London, England, that Jean Darier, a physician from France, speaking in French, defined the disorder PXE and gave it its name –
pseudo-xanthome elastique-
pseudoxanthoma elasticum.

The French Prevail

Before Darier’s address in 1896, there had been, in the European medical literature and at European medical meetings, several case reports of patients who probably had PXE, but the physicians who were reporting the cases were at a loss to explain what they were seeing.

In 1884, a French physician named Felix Balzer reported the case of a 49-year-old bricklayer who suffered from tuberculosis. Balzer reported that the bricklayer had pale yellow (xanthomatous) markings on his skin. The markings (or lesions) had been present from childhood. When Balzer looked at one of these under the microscope, he noticed broken elastic fibers. He decided that he was observing a rare and unusual variation or xanthelasma, an obsolete term for xanthoma, which is a small fatty deposit. Xanthomas are often seen around the eyes in older people.

In his article, Balzer credited another French physician named Rigal with having reported a similar alteration in elastic fibers in 1881. And in 1889, another case report was presented by Marie-Anatole Chauffard, also a French physician. In addition to many other health problems, Chauffard’s patient had skin lesions that were perfectly symmetrical and confined exclusively to flexural sites. Chauffard did not look at the skin under a microscope. Chauffard was at a loss to come up with what he considered a valid diagnosis but felt that the skin lesions he was seeing were closer in appearance to xanthomas than anything else he knew.

Detectives at Work

The detective work begins. Balzer, who was at the meeting that day, commented during the discussion following Chauffard’s presentation, on the apparent similarity between his patient and Chauffard’s.

Balzer and Chauffard were perplexed because the skin disorder they were describing did not fit any of the established classifications of disease either clinically, when they looked at the skin with the naked eye, or histologically, when they looked at a piece of the skin under the microscope. Because the patients had other health problems, the physicians did not know whether the skin manifestations were an unusual sign of a primary disorder or an ailment unto itself. Efforts to indict the liver, often the target of blame for poor health among the French, were unsuccessful.

Along Came Jean Darier

Chauffard invited Darier to see his patient. Darier studied the patient both clinically and histologically. He saw the similarity between the two patients, and he concluded that both Balzer’s and Chauffard’s patients had a disorder which, though resembling xanthomas in some ways, had as yet not been classified. It was a newly described disorder for which he established a classification and provided a name when he presented his paper at the Third International Congress in London in August 1896. His description and naming gave PXE its official beginning, which was reported by him in articles also published that same year in both the German and French medical literature.

A translation of excerpts from his August 1896 address gives us insight into how he selected the name pseudoxanthoma elasticum.

The goal of the present communication is to study and, if possible, to clarify one of these points – the point which pertains to the lesions of elastic tissue in this disorder and, especially, to what has been called ‘xanthome elastique.’
          Let me say at the outset that I think this so-called xanthome elastique is a separate disorder, very rare it is true, but well defined. This disorder is interesting in 1) The confusion which it has created between it and xanthoma; and 2) That it is a special entity unto itself, as I am going to try to show.

Darier summarized his presentation with the following five points:

  1. There exists a skin disorder, probably very rare, which has clear and well-defined clinical and anatomic, characteristics, a disorder that one can call xanthome elastique.

  2. Clinically this disorder is marked by yellowish (spots), plaques, or papules which closely resemble those of xanthoma. They distinguish themselves by their almost exclusive localization to the flexural sites of the large joints of the limbs of the trunk, as well as by the laxity and the loss of elasticity of skin of the affected area.

  3. Histologically this disorder is characterized by fragmentation with swelling and finally complete destruction of the elastic network. The specific alterations of xanthoma are lacking in this disorder.

  4. Until now nothing precise has appeared on the cause and the nature of this pseudo-xanthoma elastique. We have seen that it has appeared in childhood or in adulthood in patients and that it persists indefinitely.

  5. In any case, this false xanthoma deserves to be placed in a special category based on the alteration of elastic tissue.

So, it was Darier who recognized PXE as a separate disorder, observing that PXE is not xanthoma as others had previously diagnosed. He also noted that it is not true but a false xanthoma – pseudoxanthoma – involving the elastic tissue; hence, the name pseudoxanthoma elasticum.

Thus, we commemorate the beginning of THE FIRST 100YEARS.

By:   K. H. Neldner, MD  4:3 (1996)