[Vascular calcification in pseudoxanthoma elasticum in children]

Area of Science:

• Genetics
• Vascular Biology
• Pediatric Medicine

Background:

• Vascular calcifications are linked to diseases affecting connective tissue, skin, and leading to significant morbidity and mortality.
• Pseudoxanthoma elasticum (PXE) is a prototype condition characterized by abnormal mineralization of elastic tissues.
• This study focuses on four pediatric cases of vascular calcifications diagnosed as PXE.

Observation:

• The pediatric patients were aged 2-11 years with diverse clinical presentations.
• All patients exhibited vascular involvement and arterial hypertension.
• Other observed manifestations included skin (2 cases), gastrointestinal (2 cases), neurological (1 case), and cardiac (1 case) involvement.

Findings:

• Genetic analysis confirmed ABCC6 gene mutations in all four pediatric patients.
• The findings highlight the genetic basis of PXE and its varied clinical impact in children.
• Vascular and arterial hypertension were consistent findings across all cases.

Implications:

• Pseudoxanthoma elasticum is a rare genetic disorder with potentially severe systemic complications.
• Early and accurate diagnosis of PXE is essential for timely intervention and management.
• Increased awareness among healthcare professionals is vital for recognizing and treating PXE in pediatric populations.