[7] Small, yellowish papular lesions form and cutaneous laxity mainly affect the neck, axillae (armpits), groin, and flexural creases (the inside parts of the elbows and knees).

Eventually the mineralization of the elastic fibers in the Bruch membrane create cracks called angioid streaks that radiate out from the optic nerve.

These cracks may allow small blood vessels that were originally held back by Bruch's membrane to penetrate the retina.

[14] As a result of mineralized buildup in the vascular wall, patients may be at a greater risk for intermittent claudication, a condition in which cramping pain in the leg is induced by exercise,[15] and peripheral artery disease.

[14] Occlusions in cerebral arteries can lead to reduced or blocked blood flow, resulting in serious complications including transient ischemic attack (TIA) and stroke.

[25] A syndrome almost indistinguishable from hereditary PXE has been described in patients with hemoglobinopathies (sickle-cell disease and thalassemia) through a poorly understood mechanism.

[3] In addition, there appears to be another PXE-like syndrome with a similar phenotype but as a result of problems with another gene, gamma-glutamyl carboxylase.

[29] Recent studies have confirmed that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues.

[22] The diagnostic criteria for PXE are the typical skin biopsy appearance and the presence of angioid streaks in the retina.

[32] and confirmed at the 2014 meeting[33] These consensus criteria state that definitive PXE is characterized by two pathogenic mutations in the ABCC6 or ocular findings – angioid streaks > 1 DD or peau d'orange in an individual <20 years of age together with skin findings: There is no confirmed treatment that directly interferes with the disease process.

[5][6] Cosmetic surgery to remove excessive skin has been used to improve aesthetic appearance in PXE patients[5] but because of the non-life-threatening nature of these symptoms, should be used with caution.

The principal investigators were (in order of the date of publication): Jouni Uitto,[18] Arthur Bergen,[19] Charles Boyd,[20] and Klaus Lindpainter.

[21] The gene was patented by Charles D. Boyd, Katalin Csiszar, Olivier LeSaux, Zsolt Urban, Sharon Terry, and assigned to PXE International by these co-inventors.