P-22 insidious, rare, and mimicking bone disease: progressive pseudorheumatoid dysplasia
Abstract
Abstract Introduction Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia that primarily affects joint cartilage, leading to progressive stiffness and enlargement without inflammation. Symptoms typically manifest between ages 3 and 6. Here we report a case of PPD with a prolonged undiagnosed period, despite early symptom onset. Clinical Case A 43-year-old female office manager presented with significant joint mobility limitations and walking difficulties. Her medical history revealed that she first sought medical attention at the age of two due to leg deformities, where genu varum was detected and initially treated as rickets with vitamin D supplementation. At ages 7 and 9, the patient underwent limb lengthening and corrective surgeries for bilateral lower extremity deformities. By age 12, worsening gait required assistive devices. At age 33, a right femoral head fracture necessitated prosthesis implantation, followed by a similar procedure on the left hip at age 36. In the last five years, mobility limitations and pain in the left shoulder and knee have increased. Her medical history was otherwise unremarkable, though her parents were noted to be consanguineous. Physical exam revealed 147 cm height and significant scoliosis. Flexion contractures were observed in the proximal and distal interphalangeal joints of both hands, along with significant mobility limitations in the metacarpophalangeal joints, wrists, and elbows, especially…
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