Pseudoxanthoma elasticum
Synonyms: Gronblad-Strandberg-Touraine syndrome | PXE
A rare genetic metabolic disease with connective tissue and eye involvement characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin retina and vascular walls.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Pseudoxanthoma elasticum?
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Clinical Trials
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