Progressive Pseudo-rheumatoid Dysplasia: Two Cases in One Family

Area of Science:

• Orthopedics
• Rheumatology
• Medical Genetics

Background:

• Progressive pseudo-rheumatoid dysplasia (PPRD) is an autosomal recessive skeletal dysplasia.
• Clinical presentation can mimic juvenile idiopathic arthritis (JIA), but laboratory findings differ.
• Accurate diagnosis is crucial for appropriate management and understanding disease progression.

Purpose of the Study:

• To report two cases of PPRD within the same family.
• To emphasize the diagnostic challenges and key differentiating features between PPRD and JIA.
• To highlight the characteristic radiographic findings of PPRD.

Main Methods:

• Clinical evaluation of two brothers presenting with chronic joint pain and swelling.
• Laboratory investigations including inflammatory markers, rheumatoid factor, anti-CCP antibody, and HLAB27.
• Radiographic assessment including spine, hands, knees, pelvis, and metacarpophalangeal epiphyses.

Main Results:

• Both patients exhibited inflammatory joint pain, swelling, and deformities, initially suspected as JIA.
• Normal inflammatory markers and negative autoimmune antibodies ruled out JIA.
• Radiographs revealed characteristic findings: platyspondyly, hip dysplasia, and metacarpophalangeal epiphyseal dysplasia, confirming PPRD.

Conclusions:

• PPRD should be considered in patients with apparent inflammatory polyarthritis and negative laboratory markers for autoimmune disease.
• Characteristic radiographic findings, including platyspondyly and hip dysplasia, are key diagnostic indicators.
• Early and accurate diagnosis of PPRD is essential for patient management and genetic counseling.