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Pseudoxanthoma elasticum
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum is a progressive genetic disorder that causes the accumulation of calcium and other minerals in elastic fibers, primarily affecting the skin, eyes, and blood vessels.

Overview

Pseudoxanthoma elasticum (PXE) is characterized by the mineralization of elastic fibers, which are components of connective tissue that provide strength and flexibility. Mineralization can affect the skin, eyes, and blood vessels, and occasionally the digestive tract.

Common signs and symptoms include:

  • Skin: Yellowish bumps called papules on the neck, underarms, and other flexor areas.
  • Eyes: Abnormalities such as peau d'orange (a change in the pigmented cells of the retina) and angioid streaks (tiny breaks in Bruch's membrane), which can lead to bleeding, scarring, and vision loss.
  • Blood vessels: Narrowing of the arteries or claudication, characterized by cramping and pain during exercise due to decreased blood flow.

Causes

Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making the MRP6 protein, which is found primarily in the liver and kidneys. While the exact substances transported by MRP6 are not fully identified, it is thought to stimulate the release of adenosine triphosphate (ATP) from cells. ATP is broken down into molecules including pyrophosphate, which helps control the deposition of calcium and other minerals in the body.

Mutations in ABCC6 lead to an absent or nonfunctional MRP6 protein. This shortage impairs the release of ATP, resulting in low levels of pyrophosphate and the subsequent accumulation of calcium and other minerals in elastic fibers.

Inheritance

PXE is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations. Occasionally, the condition exhibits pseudodominance, where an affected individual has one affected parent and one parent who carries a mutation but shows no apparent symptoms, making the inheritance pattern appear autosomal dominant.

Frequently Asked Questions

Patients with PXE need a comprehensive eye exam at least once a year, with more frequent visits if angioid streaks are present. Sudden vision loss, new floaters, or a dark spot in the visual field may signal choroidal neovascularization or retinal hemorrhage and require immediate evaluation by a retinal specialist.
Regular, moderate aerobic exercise improves peripheral circulation, but high‑impact activities that provoke claudication should be avoided. Smoking cessation is critical because nicotine accelerates arterial calcification. A heart‑healthy diet low in saturated fat and cholesterol, along with blood pressure and lipid control, helps slow arterial narrowing.
Routine calcium supplementation is not contraindicated, but high‑dose calcium or vitamin D that raises serum calcium excessively may promote further mineralization of elastic fibers. Supplementation should be individualized based on bone health assessments, and serum calcium and phosphate levels should be monitored regularly.
Yes. Molecular testing for biallelic ABCC6 pathogenic variants confirms the diagnosis and can be offered to at‑risk relatives. For prospective parents, pre‑implantation genetic diagnosis (PGD) with IVF or prenatal testing (chorionic villus sampling or amniocentesis) can identify embryos or fetuses that carry both mutant alleles. Genetic counseling is essential to discuss these options.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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