Extended nasolabial flap for reconstruction of a complex nasal tip and columella defect in an elderly polymorbid patient
Küçük Resim Yok
Tarih
2018
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
OrtadogŸu Reklam Tanitim Yayincilik Turizm Egitim Insaat Sanayi ve Ticaret A.S.
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Homozygous 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.
Açıklama
Anahtar Kelimeler
Homozygote; Hypercholesterolemia type 2; Xanthomas
Kaynak
Turkiye Klinikleri Dermatoloji
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
28
Sayı
1
