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PubMed This is a summary of 15 peer-reviewed journal articles Updated
Dermatology · Pseudoxanthoma Elasticum

Tracking PXE: The Phenodex Score, Care Team, and Emerging Research

At a Glance

Pseudoxanthoma elasticum (PXE) requires a multidisciplinary care team to monitor systemic calcification. Doctors use the Phenodex score to track skin, eye, vascular, heart, and GI involvement, while emerging clinical trials are actively testing new therapies to slow calcification.

Managing Pseudoxanthoma Elasticum (PXE) is a lifelong journey that requires a proactive, organized approach. Because the condition affects multiple parts of your body at different speeds, doctors use specialized tools to track its progress and coordinate a diverse team of experts [1][2].

Tracking Your Progress: The Phenodex Score

The Phenodex staging system is a specialized “report card” your doctor uses to measure how PXE is affecting different organ systems [3]. It helps stratify your risk and determines how often you need check-ups. The score looks at five key areas [3][4]:

  • S (Skin): Measures the extent and location of skin lesions, from a few small bumps to larger areas of redundant (sagging) skin [4].
  • E (Eye): Tracks signs like angioid streaks, the presence of bleeding, or vision loss [5].
  • V (Vascular): Uses tests to measure how much mineralization is affecting blood flow to your limbs [6].
  • C (Cardiac): Monitors the heart for signs of premature calcification [3].
  • G (Gastrointestinal): Tracks any history or severity of stomach or intestinal bleeding, a critical safety metric for PXE [3].

A higher score in any category alerts your care team that more frequent monitoring or intervention may be needed in that specific area [4].

Your Multidisciplinary Care Team

Because PXE is a systemic metabolic disorder, you need a team of specialists who communicate closely with each other [1]:

  1. Dermatologist: Often makes the diagnosis and monitors skin changes [7].
  2. Ophthalmologist (Retina Specialist): The most critical team member for preserving vision. They monitor for angioid streaks and provide treatment if leaking vessels occur [8].
  3. Cardiologist/Vascular Specialist: They monitor your arterial stiffness and manage risk factors like blood pressure and cholesterol to protect your heart and circulation [9][10].
  4. Geneticist/Genetic Counselor: Helps confirm the diagnosis through ABCC6 gene testing and provides inheritance counseling for family members [2].

The Future of PXE: Emerging Research

While there is currently no systemic cure for PXE, the research landscape is highly active. Scientists are testing several therapies designed to stop or slow down the calcification process [2][11]:

  • Cyclical Etidronate: This medication has shown promise in reducing the rate of systemic arterial calcification in PXE patients [12]. Large studies like the TEMP-PREVENT trial are investigating its long-term safety and effectiveness [13].
  • Oral PPi (Pyrophosphate): Since PXE is caused by a shortage of PPi in the blood, researchers are testing whether drinking an oral PPi-enriched solution can safely restore normal levels and prevent mineral buildup (the PROPHECI trial) [11][14].
  • DS-1211: An investigational drug (a TNAP inhibitor) that aims to keep PPi levels high by preventing it from being broken down too quickly in the body [15].

Participating in Clinical Trials

Clinical trials for PXE are carefully monitored studies to see if new treatments are safe and effective [13]. Researchers use high-tech imaging, such as specialized eye scans and full-body scans, to detect tiny changes in calcification that the human eye cannot see [10]. Participating in research is a personal choice, but it is the primary way new treatments are brought to the community and can offer access to cutting-edge care.

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Common questions in this guide

What is the Phenodex score for PXE?
The Phenodex score is a staging system doctors use to measure how pseudoxanthoma elasticum is affecting your skin, eyes, vascular system, heart, and gastrointestinal tract. It helps determine your overall risk level and how often you need check-ups.
Which doctors should be on my PXE care team?
Because PXE affects multiple organ systems, your care team should generally include a dermatologist, a retina specialist, a cardiologist or vascular specialist, and a geneticist. These specialists must communicate closely to coordinate your care and monitor progression.
Are there any new treatments for pseudoxanthoma elasticum?
While there is currently no cure, researchers are testing several new therapies in clinical trials. These include treatments like oral pyrophosphate (PPi) and cyclical etidronate, which aim to stop or slow down the abnormal calcification process in the body.
How do clinical trials monitor PXE progression?
Clinical trials use advanced technologies like specialized eye scans and full-body imaging to detect microscopic changes in calcification. These high-tech tools can spot tiny changes that the human eye cannot see during standard check-ups.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Can you calculate my current Phenodex score for my skin, eyes, vascular system, and GI tract to help us track my progression?
  2. 2.How frequently should my cardiologist and ophthalmologist be sharing reports to ensure my care is coordinated?
  3. 3.Are you aware of the PROPHECI or TEMP-PREVENT trials, and do I meet the criteria for any upcoming clinical research?
  4. 4.If I need a procedure, how will you coordinate with a vascular surgeon who understands the unique risks of arterial calcification in PXE?

Questions For You

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References

References (15)
  1. 1

    Choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: case report.

    Beuran DI, Constantin C, Șerban RC, et al.

    Romanian journal of ophthalmology 2024; (68(4)):470-475 doi:10.22336/rjo.2024.85.

    PMID: 39936052
  2. 2

    REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE).

    Martin L, Spiering W, Aelbrecht K, et al.

    Annales de dermatologie et de venereologie 2026; (153(1)):103440 doi:10.1016/j.annder.2025.103440.

    PMID: 41519013
  3. 3

    Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

    Legrand A, Cornez L, Samkari W, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(8)):909-917 doi:10.1038/gim.2016.213.

    PMID: 28102862
  4. 4

    Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum.

    Fésűs L, Kiss N, Farkas K, et al.

    Archives of dermatological research 2023; (315(7)):1897-1908 doi:10.1007/s00403-023-02557-x.

    PMID: 36847829
  5. 5

    Skin and Arterial Wall Deposits of 18F-NaF and Severity of Disease in Patients with Pseudoxanthoma Elasticum.

    Gutierrez-Cardo A, Lillo E, Murcia-Casas B, et al.

    Journal of clinical medicine 2020; (9(5)) doi:10.3390/jcm9051393.

    PMID: 32397252
  6. 6

    Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

    Dias MQ, Gouveia N, Félix R, et al.

    European journal of ophthalmology 2025; (35(1)):112-118 doi:10.1177/11206721241247676.

    PMID: 38602027
  7. 7

    Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze.

    Nagarajan DR, Mani Jacob D, Kakade S

    Cureus 2025; (17(8)):e89237 doi:10.7759/cureus.89237.

    PMID: 40901220
  8. 8

    Angioid Streaks in Pseudoxanthoma Elasticum.

    Mandura RA, Radi RE

    Cureus 2021; (13(6)):e15720 doi:10.7759/cureus.15720.

    PMID: 34277296
  9. 9

    Pseudoxanthoma elasticum: An unique entity in the coronary surgery.

    Aljasem H, Ali-Ghosh H, Kiran T, Ohri S

    Perfusion 2025; (40(5)):1281-1283 doi:10.1177/02676591241288180.

    PMID: 39317383
  10. 10

    Arterial stiffness is related to a higher risk of cardiovascular events in patients with pseudoxanthoma elasticum (PXE).

    Haverkamp M, de Jong PA, Visseren FL, Spiering W

    Vascular medicine (London, England) 2026; (31(1)):19-27 doi:10.1177/1358863X251394284.

    PMID: 41566718
  11. 11

    The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.

    Clotaire L, Rubera I, Duranton C, et al.

    Trials 2025; (26(1)):30 doi:10.1186/s13063-024-08666-w.

    PMID: 39881395
  12. 12

    Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum.

    Bartstra JW, de Jong PA, Kranenburg G, et al.

    Atherosclerosis 2020; (292()):37-41 doi:10.1016/j.atherosclerosis.2019.10.004.

    PMID: 31756632
  13. 13

    The TEMP-PREVENT trial: a study protocol for a randomized, double-blind, placebo-controlled clinical trial of etidronate for treatment in young adult patients with pseudoxanthoma elasticum.

    Harmsen IM, Haverkamp M, van den Beukel TC, et al.

    Trials 2025; (26(1)):431 doi:10.1186/s13063-025-09064-6.

    PMID: 41131563
  14. 14

    Oral administration of pyrophosphate inhibits connective tissue calcification.

    Dedinszki D, Szeri F, Kozák E, et al.

    EMBO molecular medicine 2017; (9(11)):1463-1470 doi:10.15252/emmm.201707532.

    PMID: 28701330
  15. 15

    Anticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification.

    Soma K, Watanabe K, Izumi M

    Scientific reports 2022; (12(1)):19852 doi:10.1038/s41598-022-23892-5.

    PMID: 36400944

This information about tracking PXE and participating in clinical trials is for educational purposes only. Always consult your multidisciplinary care team before making changes to your medical care or joining a clinical trial.

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