Varied presentations of pseudoxanthoma elasticum in a family
Article first published online: 9 NOV 2006
Journal of Paediatrics and Child Health
Volume 42, Issue 12, pages 817–820, December 2006
How to Cite
Sakata, S., Su, J. C., Robertson, S., Yin, M. and Chow, C. (2006), Varied presentations of pseudoxanthoma elasticum in a family. Journal of Paediatrics and Child Health, 42: 817–820. doi: 10.1111/j.1440-1754.2006.00984.x
- Issue published online: 9 NOV 2006
- Article first published online: 9 NOV 2006
- Accepted for publication 15 June 2006.
Vol. 43, Issue 3, 200, Article first published online: 16 FEB 2007
- pseudoxanthoma elasticum;
- idiopathic arterial calcification of infancy;
- sudden infant death
Abstract: Pseudoxanthoma elasticum (PXE) is a hereditary disorder of elastic tissue. The characteristic skin changes are asymptomatic yellow papules around the neck and in body folds giving the skin a characteristic cobblestone appearance. The eyes, cardiovascular and gastrointestinal systems are also commonly involved. In this case-series, we present a family of four children, three of whom demonstrated diverse manifestations of PXE. The first child presented with sudden death at age 3 and showed marked coronary and renal arterial intimal fibrosis with prominent fragmentation of the internal elastic lamina, initially attributed to idiopathic arterial calcification. The second child presented with clinical features and histology of the skin typical of PXE at age 11 and the third child, with abnormal, but non-specific cardiological findings at age 8, which raised the possibility of an early stage of PXE. This report emphasizes the importance of considering pseudoxanthoma elasticum in diverse clinical settings, early diagnosis and appropriate screening for asymptomatic family members.