Quantitative nanohistology profiling of extracellular matrix alterations in pediatric stiff skin syndrome and Ehlers–Danlos syndrome
The Hospital for Sick Children
Overview:
Children with rare connective tissue disorders, such as stiff skin syndrome (SSS) and Ehlers–Danlos syndrome (EDS), often face serious problems with their skin and joints. In SSS, the skin becomes abnormally hard and tight, leading to painful joint contractures and reduced movement. In EDS, the skin can be fragile and overly stretchy, with slow healing, scarring, and frequent injury. These disorders greatly affect quality of life and limit daily activities. For many families, advanced genetic testing does not provide an answer, leaving diagnosis uncertain and treatment challenging. We will use quantitative nanohistology (QNH), an advanced imaging method, to study skin biopsies from children with SSS and EDS. QNH lets researchers see collagen—the main protein in skin—at the nanoscale, showing how it is organized and how strong it is. This study will provide the first nanoscale information to help us better understand these disorders and support better diagnosis in the future.
Status:
This was funded through a 2025 PeDRA Research Grant.