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

ABSTRACT:

Background

Pseudoxanthoma 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.

Methods

Clinical and histopathological examinations and mutation analyses of ABCC6 gene were performed.

Results

Lesional skin biopsy of the patient with PXE demonstrated clumping and fragmentation of elastic fibers, and calcification in the dermis. Non-lesional axillary skin samples of the husband, daughter,

SUBMITTER: Akoglu G 

PROVIDER: S-EPMC4007358 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature