About Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum is a systemic metabolic disorder caused by loss-of-function variants in ABCC6, a hepatic ABC transporter involved in purine nucleotide export and systemic mineralisation regulation. Progressive calcification and fragmentation of elastic fibres affects the skin, Bruch's membrane in the eye, and the arterial wall, leading to characteristic yellowish skin papules, vision-threatening choroidal neovascularisation, and premature cardiovascular disease. The condition is clinically heterogeneous with highly variable age of onset and severity of complications.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Pseudoxanthoma Elasticum trials.
Ophthalmology records documenting angioid streaks and any history of choroidal neovascularisation are critical screening documents — obtain fluorescein angiography or OCT-A reports.
Molecular confirmation of biallelic ABCC6 pathogenic variants is required for most interventional trials; research and clinical panels targeting ABCC6 are widely available.
Cardiovascular risk factor documentation (lipids, ABI, coronary imaging if applicable) is commonly required as trials often stratify by vascular burden.
Patient Resources
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