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[Vascular calcification in pseudoxanthoma elasticum in children]
A Dibi1, N Mouane2, E El Fahime3
1Service de pédiatrie IV, hôpital d'Enfants, CHU Ibn Sina, faculté de médecine et de pharmacie, université Mohamed V, Rabat institut, avenue Ibn-Rochd, BP 6542, Rabat, Maroc.
Insights
Pseudoxanthoma elasticum, a rare genetic disorder, can cause vascular calcifications in children. Early diagnosis and understanding of this condition are crucial for managing its serious health complications.
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.
Introduction:
Vascular calcifications are associated with several diseases that affect vascular connective tissue and skin and cause considerable morbidity and mortality. The prototype of these conditions is pseudoxanthoma elasticum. We report, in this study, 4 pediatric cases of vascular calcifications diagnosed as elastic pseudoxanthoma.
Observations:
These 4 children were 2-11 years old and presented variable clinical features. Vascular involvement and arterial hypertension was observed in all patients, skin involvement in 2 cases, gastrointestinal involvement in 2 cases, neurological impairment in one case, and cardiac involvement in one case. Demonstration of ABCC6 gene mutations provided diagnostic confirmation in all cases.
Conclusion:
Pseudoxanthoma elasticum is a rare genetic disease, which can lead to many complications. Appropriate knowledge and early diagnosis are essential.
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