Overview
Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome, is a rare inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. The disease is caused by mutations in the ABCC6 gene, which encodes a transmembrane transporter protein primarily expressed in the liver and kidneys. Although the exact mechanism is not fully understood, the deficiency of this transporter leads to reduced levels of circulating anti-mineralization factors, resulting in ectopic mineralization of elastic tissues throughout the body. The hallmark skin findings include yellowish, papular lesions that give a cobblestone or "plucked chicken" appearance, most commonly affecting the neck, axillae, groin, and flexural areas. Ocular involvement is a major source of morbidity, with angioid streaks (breaks in Bruch's membrane of the retina) being a characteristic finding that can lead to choroidal neovascularization and progressive vision loss. Cardiovascular manifestations include premature atherosclerosis, peripheral arterial disease, intermittent claudication, and gastrointestinal hemorrhage due to involvement of arterial walls. Mitral valve prolapse and restrictive cardiomyopathy may also occur. There is currently no cure for PXE, and management is primarily supportive and aimed at preventing complications. Anti-VEGF intravitreal injections have become the standard of care for choroidal neovascularization and have significantly improved visual outcomes. Cardiovascular risk factor management, including control of hypertension and hyperlipidemia, is recommended. Patients are advised to avoid contact sports and activities that increase the risk of retinal hemorrhage. Regular ophthalmologic and cardiovascular monitoring is essential. Research into potential therapies targeting the underlying mineralization process, including supplementation with anti-mineralization factors, is ongoing.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood to adulthood
Can begin any time from childhood through adulthood
FDA & Trial Timeline
8 eventsCentre Hospitalier Universitaire de Nice — NA
University Hospital, Angers — NA
University Hospital, Angers
University Hospital, Bonn
Inozyme Pharma — PHASE2
UMC Utrecht — PHASE3
Centre Hospitalier Universitaire de Nice — NA
University Hospital, Basel, Switzerland
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Pseudoxanthoma elasticum.
6 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pseudoxanthoma elasticum.
Community
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Start the conversation →Latest news about Pseudoxanthoma elasticum
Disease timeline:
New trial: PPI Supplementation to Fight ECtopIc Calcification in PXE
Phase NA trial recruiting. study treatment PPI
Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Pseudoxanthoma elasticum
What is Pseudoxanthoma elasticum?
Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome, is a rare inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. The disease is caused by mutations in the ABCC6 gene, which encodes a transmembrane transporter protein primarily expressed in the liver and kidneys. Although the exact mechanism is not fully understood, the deficiency of this transporter leads to reduced levels of circulating anti-mineralization factors, resulting in ectopic mineralization of elasti
How is Pseudoxanthoma elasticum inherited?
Pseudoxanthoma elasticum follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pseudoxanthoma elasticum typically begin?
Typical onset of Pseudoxanthoma elasticum is childhood to adulthood. Age of onset can vary across affected individuals.
Are there clinical trials for Pseudoxanthoma elasticum?
Yes — 6 recruiting clinical trials are currently listed for Pseudoxanthoma elasticum on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Pseudoxanthoma elasticum?
3 specialists and care centers treating Pseudoxanthoma elasticum are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.