Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in . We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises the splicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region, which is crucial for function.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586818 | PMC |
| http://dx.doi.org/10.1038/s41439-019-0062-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze.
Cureus
August 2025
Ophthalmology, Burjeel Medical City, Abu Dhabi, ARE.
We present a case of a 23-year-old female with characteristic skin papules and angioid streaks characteristic of pseudoxanthoma elasticum (PXE), an autosomal recessive disorder of elastic fiber mineralization. Genomic sequencing revealed a heterozygous variant in the ABCC6 gene. Despite the absence of biallelic mutations, the clinical phenotype aligns with PXE.
View Article and Find Full Text PDFEarly pharmacological blockade of the CXCL12-CXCR4 axis attenuates vertebral hypercalcification in a zebrafish model of pseudoxanthoma elasticum.
Biochem Biophys Rep
September 2025
Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, Guangdong, 510100, China.
Pseudoxanthoma elasticum (PXE), caused by pathogenic variants in , is characterized by pathological ectopic calcification with poorly understood mechanisms and no effective therapies. To address this, we developed the first zebrafish model of human PXE by introducing the pathogenic point mutation ( , F2 generation) using the highly efficient zhyA3A-CBE5 cytosine base editor. Three mutant types (Type1-Type3, T1-T3) stratified by calcification severity, exhibited reduced levels of the calcification inhibitors vitamin K1 (VK1) and carboxylated matrix Gla protein (cMGP), which were inversely correlated with the severity of calcification.
View Article and Find Full Text PDFResponse to "Acquired pseudoxanthoma elasticum progressing after chronic liver transplant rejection" by Tardieu et al. Ann Dermatol Venereol 2025;152:103416: Could anti-ABCC6 antibodies cause pseudoxanthoma elasticum after liver transplantation?
Ann Dermatol Venereol
August 2025
PXE National Reference Center, MAGEC Nord, University Hospital of Angers, Angers, France; University of Angers, MITOVASC Laboratory, UMR CNRS 6015, INSERM U1083, Angers, France. Electronic address:
Acquired cutaneous pseudoxanthoma elasticum progressing after chronic liver transplant rejection.
Ann Dermatol Venereol
August 2025
Allergology and Photobiology Department Université Grenoble Alpes, Dermatology,- CHU Grenoble Alpes, Grenoble, France; Institute for Advanced Biosciences, Université Grenoble Alpes, INSERM U1209, Grenoble, France.
Intraocular Pressure After Anti-Vascular Endothelial Growth Factor Injection in Eyes With a Mineralized Bruch's Membrane Caused by Pseudoxanthoma Elasticum.
Invest Ophthalmol Vis Sci
August 2025
Department of Ophthalmology, University of Bonn, Bonn, Germany.
Purpose: To assess acute IOP changes after anti-VEGF injections in patients with Pseudoxanthoma elasticum (PXE) compared to other retinal diseases.
Methods: Twenty eyes of patients with PXE (mean age 63.4 ± 6.