Rare Condition…Solved!

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.

Dr. Siddharth Banka, MBBS, MRCPCH, Ph.D. is Clinical Senior Lecturer from the Manchester Centre for Genomic Medicine at The University of Manchester. Dr. Banka led a team of researchers on the study which was recently published in Annals of Rheumatic Diseases. The researchers showed that the genetic cause of LP is linked to whether people get scleroderma or not.

Dr. Banka told OTW, “This is an autosomal dominant condition in which movements of all joints are restricted from birth and get progressively worse with age. Joints can progressively become painful with age. A number of skeletal abnormalities such as cervical spine fusion and shortness of phalanges, metacarpals and metatarsals can be seen in most patients. Some patients can develop benign bony or cartilaginous growths. Many patients suffer from carpal tunnel syndrome and unusual thickening of the skin.”

“We have shown that LP is caused by duplications of chromosome 8q22.1 that include two genes, GDF6 and SDC2, which are important in the development of the skeleton, joints and connective tissue. We are now looking into the biological mechanism of how the duplication results in LP and if GDF6 and SDC2 play a role in commoner conditions such as systemic sclerosis. This may lead improvement in treatments of these conditions in the future.”

“While LP is a rare condition and less than 50 cases have ever been reported n the medical literature some patients may remain undiagnosed and could be wrongly labeled as having arthritis.”