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Rare disease
Case report
Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis
  1. Pratyush Shahi1,
  2. Apoorv Sehgal1,
  3. Aarushi Sudan1 and
  4. Shreya Sehgal2
  1. 1Orthopaedics, University College of Medical Sciences, New Delhi, Delhi, India
  2. 2Radiology, PGIMER, Chandigarh, India
  1. Correspondence to Dr Pratyush Shahi; pratyushshahi{at}gmail.com

Abstract

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.

  • musculoskeletal and joint disorders
  • genetics
  • orthopaedics

https://doi.org/10.1136/bcr-2020-234461

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    Footnotes

    • Contributors PS had the idea of the article. ApS and AaS did the literature search. PS, AaS and SS wrote the article. PS and ApS were involved in patient care.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.