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Published on: January 23, 2019
Paediatric pseudoxanthoma elasticum with cardiovascular involvement
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.
Insights
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.
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.
Background:
Pseudoxanthoma elasticum (PXE) is characterized by aberrant mineralization of connective tissues, causing considerable morbidity and mortality. The disease is typically of late onset, the skin manifestations first being noted in the teens or later. Another aberrant mineralization disorder, generalized arterial calcification of infancy (GACI), is present at birth and can demonstrate a phenotypic overlap with PXE.
Objectives:
A patient with PXE was noted to have skin findings as early as at 6 years of age, with cardiovascular involvement. The purpose of this study was to examine the genetic basis of this phenotypic presentation in the spectrum of PXE/GACI.
Methods:
The patient's genotype was studied by sequencing ABCC6 and ENPP1, genes known to be associated with PXE and/or GACI.
Results:
Screening of the ABCC6 gene revealed two pathogenetic mutations, p.R1141X and g.del23-29. Analysis of the ENPP1 gene failed to demonstrate the presence of mutations.
Conclusions:
This study demonstrates the presence of cutaneous findings of PXE in an 8-year-old paediatric patient, with cardiovascular involvement, illustrating the phenotypic spectrum of PXE.
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