Pseudoxanthoma elasticum epidemiology and demographics: Difference between revisions
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==Overview== | ==Overview== | ||
Published reports estimate that the prevalence of pseudoxanthoma elasticum, both the recessive and dominant forms, is 1 in 70,000 to 100,000,<ref name="pmid9302259">{{cite journal | author = Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K | title = Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1 | journal = [[Human Molecular Genetics]] | volume = 6 | issue = 11 | pages = 1823–8 | year = 1997 | month = October | pmid = 9302259 | doi = | url = http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9302259 | issn = }}</ref> with females twice as many as the males. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
PXE is a rare disease but the exact prevalence is unknown. The prevalence has been suggested to be approximately 1:50,000, | Pseudoxanthoma elasticum (PXE) is a rare disease but the exact prevalence is unknown. The prevalence has been suggested to be approximately 1:50,000, with an estimate of 150,000 affected in the world assuming the same global prevalence.<ref name="Uitto-2012">{{Cite journal | last1 = Uitto | first1 = J. | title = Rare heritable skin diseases: targets for regenerative medicine. | journal = J Invest Dermatol | volume = 132 | issue = 11 | pages = 2485-8 | month = Nov | year = 2012 | doi = 10.1038/jid.2012.334 | PMID = 23069901 }}</ref> Females are twice as likely to be affected as males, and the average age of onset is 13 years. The disease occurs in all ethnicities, and an increased risk for PXE is seen in a few populations including the Afrikaners in South Africa, who display a [[founder effect]].<ref name="pmid12384774">{{cite journal | author = Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD | title = Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa | journal = [[Human Genetics]] | volume = 111 | issue = 4-5 | pages = 331–8 | year = 2002 | month = October | pmid = 12384774 | doi = 10.1007/s00439-002-0808-1 | url = http://dx.doi.org/10.1007/s00439-002-0808-1 | issn = }}</ref><ref name="Allen-1992">{{Cite journal | last1 = Allen | first1 = P. | last2 = Wightman | first2 = F. | title = Spectral pattern discrimination by children. | journal = J Speech Hear Res | volume = 35 | issue = 1 | pages = 222-33 | month = Feb | year = 1992 | doi = | PMID = 1735972 }}</ref> | ||
==References== | ==References== | ||
{{ | {{Reflist|2}} | ||
[[Category:Genetic Disease]] | [[Category:Genetic Disease]] | ||
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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
Published reports estimate that the prevalence of pseudoxanthoma elasticum, both the recessive and dominant forms, is 1 in 70,000 to 100,000,[1] with females twice as many as the males.
Epidemiology and Demographics
Pseudoxanthoma elasticum (PXE) is a rare disease but the exact prevalence is unknown. The prevalence has been suggested to be approximately 1:50,000, with an estimate of 150,000 affected in the world assuming the same global prevalence.[2] Females are twice as likely to be affected as males, and the average age of onset is 13 years. The disease occurs in all ethnicities, and an increased risk for PXE is seen in a few populations including the Afrikaners in South Africa, who display a founder effect.[3][4]
References
- ↑ Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K (1997). "Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1". Human Molecular Genetics. 6 (11): 1823–8. PMID 9302259. Unknown parameter
|month=ignored (help) - ↑ Uitto, J. (2012). "Rare heritable skin diseases: targets for regenerative medicine". J Invest Dermatol. 132 (11): 2485–8. doi:10.1038/jid.2012.334. PMID 23069901. Unknown parameter
|month=ignored (help) - ↑ Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD (2002). "Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa". Human Genetics. 111 (4–5): 331–8. doi:10.1007/s00439-002-0808-1. PMID 12384774. Unknown parameter
|month=ignored (help) - ↑ Allen, P.; Wightman, F. (1992). "Spectral pattern discrimination by children". J Speech Hear Res. 35 (1): 222–33. PMID 1735972. Unknown parameter
|month=ignored (help)