What is pseudoxanthoma elasticum (PXE)? How does this cause GI bleeding?

PXE is inherited in an autosomal dominant or autosomal recessive fashion, due to mutations in the ABCC6 gene, which codes for a cellular transport protein. The basic defect is in the elastic tissue in various organs—the skin, blood vessels, eyes, and heart. Recent studies indicate that in PXE, extracellular material accumulates due to a defective MRP6 transmembrane transporter; this is thought to cause the calcification of elastic fibers and fragmentation of the tissue. As a result, a major part of the structural framework in these tissues is weakened, leading to disastrous consequences.

Changes of PXE in the skin develop in adolescence or early adulthood and typically begin on the sides of the neck. The skin lesions consist of asymptomatic, yellowish pebbly plaques on the neck, axillae, antecubital fossae, abdomen, and thighs or other large flexor surfaces. PXE has a peculiar texture and color reminiscent of “plucked chicken skin.” PXE typically presents in a reticular pattern.


Internally, the yellowish papules of PXE are seen in the mouth, esophagus, and stomach. Involvement of the elastic tissue of the gastric arteries may result in sudden, massive hemorrhage. Involvement of the eye, specifically Bruch’s membrane, causes angioid streaks of the retina. Sudden hemorrhage with acute loss of vision may be a presenting sign. Involvement of large vessels results in claudication, hypertension, and angina at an early age.

Finger RP, Charbel Issa P, Ladewig MS, et al: Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches, Surv Ophthalmol 54(2):272–285, 2009.