RT Journal Article
SR Electronic
T1 Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e234461
DO 10.1136/bcr-2020-234461
VO 13
IS 5
A1 Pratyush Shahi
A1 Apoorv Sehgal
A1 Aarushi Sudan
A1 Shreya Sehgal
YR 2020
UL http://casereports.bmj.com/content/13/5/e234461.abstract
AB A 25-year-old man presented to us with progressive multiple joint pain, enlargement, and restricted movements. X-rays showed platyspondyly, multiple epiphyseal widening, synovial chondromatosis, and decreased bone stock and cortical thickness. Genetic testing showed biallelic pathogenic variants in CCN6 which confirmed the diagnosis of progressive pseudorheumatoid dysplasia. Supportive care, physical therapy, genetic and psychological counselling were provided to the patient.