Progressive Pseudorheumatoid Dysplasia or JIA?

Abstract

Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joints were bulky on examination with mild flexion deformity. Patient had exaggerated kyphosis and lumbar lordosis with pigeon chest and restricted hip joint movements. Anteroposterior X-rays of the hip joints revealed widened and flattened epiphyses of the femoral heads with narrow and irregular joint spaces. Hand X-rays revealed periarticular osteopenia, significant narrowing of the joint spaces of proximal interphalangeal, and distal interphalangeal joints, together with osseous enlargement of the basis of metacarpal bones and phalanges. Spinal X-rays revealed generalized platyspondyly and anterior beaking of vertebral bodies. There was a clear mega os trigonum in his feet images. All blood investigations were normal with no evidence of inflammation and thyroid hormone levels were normal. The diagnosis of PPD was favored by imaging studies and normal inflammatory markers and the patient was treated with physiotherapy, family counseling, and anti-inflammatory medications.

Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report

“…There is no cure for PPRD, but treatment may include pain medication and hip and knee joint replacement surgery at an early age [ 5 ]. The radiological features of JIA are different from PPRD, including spondyloepiphyseal dysplasia with platyspondyly as an early finding and lack of destructive joint erosions [ 7 , 8 ].…”

13 year old Female with Progressive Pseudorheumatoid Dysplasia misdiagnosed as Juvenile idiopathic arthritis

“…PPRD is clearly differentiated from JRA by absence of in ammation, extra-skeletal manifestations and articular bone erosion. Moreover these patients do not respond to anti-rheumatic agents and therefore will not yield any clinical bene t. The radiological features are completely different from PPRD which include spondyloepiphyseal dysplasia with platyspondyly as an early nding, and the lack of destructive joint erosions (8,9).…”

A Rare Skeletal Dysplasia-Close Mimicker of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia

“…Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive arthropathy of childhood involving the entire skeleton. 1 Here we report a genetically proven case of PPRD from our country Pakistan. It is often mistaken as juvenile rheumatoid arthritis: however, the joint problems in juvenile rheumatoid arthritis are associated with inflammation, while those in PPRD are not.…”