Extended nasolabial flap for reconstruction of a complex nasal tip and columella defect in an elderly polymorbid patient

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dc.contributor.authorKaragün, Ebru
dc.date.accessioned2020-04-30T13:32:29Z
dc.date.available2020-04-30T13:32:29Z
dc.date.issued2018
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractHomozygous familial hypercholesterolemia is a rare autosomal dominant disorder with a rate of 1/1.000.000. The main defect in familial hypercholesterolemia is related to the low-density lipoprotein receptor located in the short arm of chromosome 19. These defects include a reduction in the number of resultant low-density lipoprotein receptors or a total absence, or alternatively, a defective receptor construction.These defects lead to tendon and skin xanthomas, early-onset coronary artery disease and myocardial infarction-related deaths due to excessive accumulation of low-density lipoprotein cholesterol in the plasma. It s the first finding xanthomas are know. Coronary artery disease can be prevented with early diagnosis. Here we present a case of familial homozygous hypercholesterolemia diagnosed by xanthomastia at 3 years of age and the etiopathogenesis, diagnosis and treatment of the disease are reviewed in the light of the literature. Copyright © 2018 by Türkiye Klinikleri.en_US
dc.identifier.doi10.5336/dermato.2018-60145en_US
dc.identifier.endpage31en_US
dc.identifier.issn1300-0330
dc.identifier.issue1en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage28en_US
dc.identifier.urihttps://dx.doi.org/10.5336/dermato.2018-60145
dc.identifier.urihttps://hdl.handle.net/20.500.12684/313
dc.identifier.volume28en_US
dc.indekslendigikaynakScopusen_US
dc.language.isotren_US
dc.publisherOrtadogŸu Reklam Tanitim Yayincilik Turizm Egitim Insaat Sanayi ve Ticaret A.S.en_US
dc.relation.ispartofTurkiye Klinikleri Dermatolojien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHomozygote; Hypercholesterolemia type 2; Xanthomasen_US
dc.titleExtended nasolabial flap for reconstruction of a complex nasal tip and columella defect in an elderly polymorbid patienten_US
dc.title.alternativeKsantom bulgusuyla tanı konulan Üç yaşında familyal homozigot hiperkolesterolemien_US
dc.typeArticleen_US

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