Scientists identify cause of joint, skeletal and skin problems in children and adults: Leri’s pleonosteosis
Scientists from The University of Manchester and Central Manchester University Hospitals NHS Foundation Trust have identified the cause of a rare condition called Leri’s pleonosteosis (LP).
LP is an inherited condition in which children are born with contractures of multiple joints and then develop difficulty of joint movements that progress in severity with age. The research team showed that extra genetic material on chromosome number 8 caused the condition in two families from Manchester.
Some patients with LP also develop thickening of their skin, similar to that seen in patients with a more common disorder called scleroderma.
Using their new knowledge, the research team showed that the genetic cause of LP is linked to whether people get scleroderma or not.
This work opens opportunities to understand scleroderma and explore new treatments.