Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking

The extracellular matrix protein fibulin-4 has been shown to be indispensable for elastic fiber assembly, but there is also evidence from human mutations that it is involved in controlling skeletal development and bone stability. Fibulin-4 mutations were identified in patients suffering from vascular abnormality and/or cutis laxa, and some of...

Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome

Patients with Marfan syndrome (MFS) are at high risk of life-threatening aortic dissections. The condition is caused by mutations in the gene encoding fibrillin-1, an essential component in the formation of elastic fibers. While experimental findings in animal models of the disease have shown the involvement of transforming growth factor-β (TGF...

Testicular microlithiasis in a 2-year-old boy with pseudoxanthoma elasticum

Pseudoxantoma elasticum (PXE) is a rare chromosomal disorder that results in mineralization of elastic fibers, especially in the skin, eye, and cardiovascular system. Recently, PXE has been associated with testicular microlithiasis (TM),1 which itself might be associated with testicular malignancy.2 Here we report on a 9-year-old boy with PXE...