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

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

INTERNATIONAL JOURNAL OF DERMATOLOGY, vol.53, no.6, pp.692-698, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 6
  • Publication Date: 2014
  • Doi Number: 10.1111/ijd.12008
  • Journal Name: INTERNATIONAL JOURNAL OF DERMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.692-698
  • Hacettepe University Affiliated: Yes

Abstract

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.