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
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 used in older literature, 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 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.