CUTIS LAXA : research

On this page you can find an overview of the CL research.


Adamo et al. describe a cutis laxa syndrome caused by bi-allelic loss of-function variants in EMILIN1 characterized by arterial tortuosity, aneurysm formation, and osteopenia. They provide a model in which EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis.   Read the publication

Dr. Laura Muiño Mosquera, MD (Ghent, Belgium) : Cardiovascular Follow-up in CL

Cutis Laxa disorders usually present cardiovascular issues that need a specific follow up. Various devices can be used such as echocardiography, CT-Scan and MRI. Each one of those devices has its pros and cons and must be chosen according to what is examined.