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Related Experiment Video

Updated: May 10, 2026

Harvest of Endothelial Cells from the Balloon Tips of Swan-Ganz Catheters after Right Heart Catheterization

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Published on: January 23, 2019

Paediatric pseudoxanthoma elasticum with cardiovascular involvement.

Q Li¹, J Baker, J Kowalczyk

¹Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, U.S.A.

The British Journal of Dermatology

|June 11, 2013

Summary

Pseudoxanthoma elasticum (PXE) can manifest in childhood with skin and cardiovascular issues. Genetic analysis identified mutations in the ABCC6 gene, expanding the known PXE/GACI spectrum.

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Area of Science:

Genetics
Molecular Biology
Pediatrics

Background:

Pseudoxanthoma elasticum (PXE) is a genetic disorder causing abnormal mineralization in connective tissues, typically appearing in adolescence.
Generalized arterial calcification of infancy (GACI) is a related condition present at birth, sharing some symptoms with PXE.

Observation:

A pediatric patient presented with early-onset PXE symptoms, including skin manifestations at age 6 and cardiovascular involvement.
This case prompted an investigation into the genetic underpinnings of this early-onset presentation within the PXE/GACI spectrum.

Findings:

Genetic sequencing identified two mutations (p.R1141X and g.del23-29) in the ABCC6 gene.
No mutations were found in the ENPP1 gene, which is also associated with PXE and GACI.

Implications:

This study highlights that PXE can present earlier than typically observed, even in childhood.
The findings underscore the importance of considering ABCC6 mutations in pediatric cases with features of PXE and GACI.
This expands the understanding of the phenotypic variability within PXE and related mineralization disorders.