Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort

Affiliations

¹ Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
² Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
³ Department of Radiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
⁴ Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Amsterdam Reproduction & Development, Amsterdam, The Netherlands.
⁵ Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: W.Spiering@umcutrecht.nl.

Melanie Haverkamp et al. J Invest Dermatol. 2025.

. 2025 Jun 16:S0022-202X(25)01852-4.

doi: 10.1016/j.jid.2025.05.035. Online ahead of print.

¹ Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
² Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
³ Department of Radiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
⁴ Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Amsterdam Reproduction & Development, Amsterdam, The Netherlands.
⁵ Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: W.Spiering@umcutrecht.nl.

No abstract available

Keywords: ABCC6; Angioid streaks; Diagnostic criteria; Peau d’orange; pseudoxanthomas.

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