Pseudoxanthoma elasticum historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Pseudoxanthoma elasticum was first described by Dr. Ferdinand-Jean Darrier in 1896. It was also called Grönblad-Strandberg syndrome in older literature.
Historical Perspective
The first to describe the characteristic skin changes for pseudoxanthoma elasticum was the French dermatologist Rigal in 1881, but the first description of PXE that distinguished it from other xanthomatous conditions was by Dr. Ferdinand-Jean Darrier in 1896.[1] The eponym Grönblad-Strandberg syndrome is named after two physicians who made further discoveries in the disease manifestations.[2] PXE has the distinction of being the only disease for which a layperson is the inventor of the mutated 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.[3] PXE was initially thought to be a disorder of the elastic fiber system. However, it has been linked to the mutation of the ABCC6 gene.
References
- ↑ Darier FJ (1896). Pseudoxanthoma elasticum. Monatschr Prakt Dermatol 23:609-17.
- ↑ Template:WhoNamedIt
- ↑ Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG (2007). "Advocacy groups as research organizations: the PXE International example". Nat. Rev. Genet. 8 (2): 157–64. doi:10.1038/nrg1991. PMID 17230202.