Progressive pseudorheumatoid dysplasia: a case report and literature review

Elena Icătoiu^(1,2,*), Niculina Butoianu^(2,3), Alexis Cochino^(2,4), Andra Bălănescu^(1,2), Violeta Bojincă^(1,2)

1)Saint Mary Clinical Hospital, Rheumatology/Internal Medicine, Bucharest, Romania
2)Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
3)Clinical Psychiatric Hospital "Dr. Alexandru Obregia", Pediatric Neurology, Bucharest, Romania
4)National Institute for Mother and Child Health "Alessandrescu-Rusescu", Pediatrics, Bucharest, Romania

Objectives: Progressive pseudo-rheumatoid dysplasia (PPRD) is a rare autosomal recessive disorder characterized by articular cartilage degeneration causing joint stiffness, abnormal gait and significant morbidity. Its prevalence is estimated as one per million but the disease remains underdiagnosed mainly due to the overlap features with juvenile idiopathic arthritis (JIA).
Material and Methods: Case report and literature review
Outcomes: We report the case of a 17-year-old short stature boy with a provisional diagnosis of rheumatoid factor negative polyarticular juvenile idiopathic arthritis (JIA) with unsatisfactory clinical evolution on immunosuppressive therapy. PPRD was suspected based on the clinical presentation, progression of the disease and the aspect of the X-rays of hands and spine, while whole exome sequencing confirmed the diagnosis. Our aim is to review the literature concerning clinical, laboratory and radiological features of PPRD in order to enable early diagnosis and spare the patients from unnecessary investigations and toxic medications.
Conclusions: Prompt recognition of this entity and subsequent confirmation of the diagnosis is of particular interest for paediatric rheumatologists due to the considerable impact it has on the patients’ quality of life.

Keywords: pseudo-rheumatoid dysplasia, autosomal recessive, cartilage degeneration, paediatric rheumatology

Corresponding author(s): Elena Icătoiu, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania, e-mail: elena.juganaru@drd.umfcd.ro