Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes

Akoglu, Gulsen; Li, Qiaoli; GÖKÖZ, ÖZAY; Gazyagci, Ali; Uitto, Jouni

doi:10.1111/ijd.12008

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes

Akoglu G., Li Q., GÖKÖZ Ö., Gazyagci A. S., Uitto J.

INTERNATIONAL JOURNAL OF DERMATOLOGY, cilt.53, sa.6, ss.692-698, 2014 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 53 Sayı: 6
Basım Tarihi: 2014
Doi Numarası: 10.1111/ijd.12008
Dergi Adı: INTERNATIONAL JOURNAL OF DERMATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.692-698
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

BackgroundPseudoxanthoma elasticum (PXE) is a heritable ectopic mineralization disorder affecting cutaneous, ocular, and cardiovascular systems, caused by mutations in the ABCC6 gene. PXE presents with a marked clinical and genetic heterogeneity. Furthermore, heterozygous carriers may present with limited histopathological features. This study was conducted to investigate a patient with PXE and her family members clinically, histopathologically, and genetically.