Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also Grönblad-Strandberg syndrome , is an autosomal dominant or recessive inherited disease in which the elastic fibers of the connective tissue are changed by the storage of mineral salts (calcium). The fibers become brittle and break up into short fragments. Changes to the skin, blood vessels, cardiovascular system and gastrointestinal tract occur. Bleeding into the retina leads to a loss of central vision. The course of the disease is very different. Not everyone has all the symptoms. Therefore, the diagnosis is often problematic and there are certainly a high number of undetected cases. Scientists estimate the number of people affected nationwide at around 1000. Clinically, yellowish, flat, mostly symmetrically arranged papules appear on the lateral neck and the flexors of the large joints in young adults. Similar changes can also be found on the fundus of the eye (so-called angioid streaks) and the like. Blindness can result. The prognosis is largely determined by the cardiovascular changes.

Web links

• Self-help group for PXE sufferers in Germany eV Self-help group for PXE sufferers in Germany, accessed on May 6, 2020 . 

Individual evidence

1. ^ Konrad Bork, Walter Burgdorf, Nikolaus Hoede: Oral mucous membrane and lip diseases: Clinic, diagnostics and therapy. Atlas and manual. Schattauer Verlag, 2008, ISBN 978-3-7945-2486-0 , p. 310. (online)
2. ↑ Constantin E. Orfanos, Claus Garbe, Beate Tebbe, CC Zouboulis: Therapy of skin diseases. Springer, 2002, ISBN 3-540-41366-9 , pp. 767ff. (on-line)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !