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.
Leri Pleonosteosis is an extremely rare inherited disorder characterised by unusual, flattened facial features, abnormalities of the hands and feet and malformed skeletons. Children with the condition are born with contractures of multiple joints and then develop difficulty of joint movements that progress in severity with age. Some patients with Leri's pleonosteosis also develop thickening of their skin, similar to that seen in patients with a more common disorder called scleroderma.
Dr Sid Banka from the Manchester Centre for Genomic Medicine at The University of Manchester led a team of researchers on the study which is published in the Annals of Rheumatic Diseases journal. The research team showed that extra genetic material on chromosome number 8 caused the condition in two families from Manchester. 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.