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Scientists identify cause of joint, skeletal and skin problems in children and adults: Leri’s pleonosteosis

Scientists from The and have identified the cause of a rare condition called Leri’s pleonosteosis (LP).

from the at The University of Manchester, led a team of researchers on the study which is published in Annals of Rheumatic Diseases journal.

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.

Source

University of Manchester