[Vascular calcification in pseudoxanthoma elasticum in children]

Abstract

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.

Keywords: ABCC6 gene; Calcification vasculaire; Child; Enfant; Gène ABCC6; Hypertension; Hypertension artérielle; Pseudoxanthoma elasticum; Pseudoxanthome élastique; Vascular calcification.