Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis.
Pratysuh ShahiApoorv SehgalAarushi SudanShreya SehgalPublished in: BMJ case reports (2020)
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.
Keyphrases
- multiple sclerosis
- pain management
- copy number
- healthcare
- chronic pain
- palliative care
- genome wide
- bone mineral density
- case report
- optical coherence tomography
- intellectual disability
- neuropathic pain
- quality improvement
- hiv testing
- gene expression
- physical activity
- body composition
- hepatitis c virus
- depressive symptoms
- health insurance
- men who have sex with men
- bone regeneration