CUTIS LAXA : research

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

The Cutis Laxa “Patient Journey”

The “Patient Journey” seeks to identify the needs that are specific to individual syndromes. To achieve this, patient representatives completed a mapping exercise of the needs of each rare inherited syndrome they represent, across the different stages of the Patient Journey. This is the definition of the Patient Journey as mentioned in this article published […]


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