History
The first description of PXE that distinguished it from other xanthomatous conditions was by Dr Ferdinand-Jean Darrier in 1896. The eponym "Grönblad-Strandberg syndrome" is used in older literature, after two physicians who made further discoveries in the disease manifestations.
PXE has the distinction of being the only disease for which a layperson is the inventor of the gene, ABCC6. Sharon F. Terry, co-founder of PXE International with her husband, Patrick F. Terry, worked with scientists to discover and patent the gene in 2000. The Terrys' two children have pseudoxanthoma elasticum.
Read more about this topic: Pseudoxanthoma Elasticum
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