Varied presentations of pseudoxanthoma elasticum in a family

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.