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. 2021 Oct 25;13(1):62-68.
doi: 10.1055/s-0041-1736611. eCollection 2024 Mar.

Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant

Mayank Nilay  1 , Anup Rawool  1   2 , Kausik Mandal  1
Affiliations

Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant

Mayank Nilay et al. J Pediatr Genet. .

Abstract

Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive arthropathy, affecting school-aged children. It is characterized by progressive degeneration of the articular cartilage. The majority of the pathogenic variations are found in exon 2, exon 4, and exon 5 of the putative gene, CCN6 (WISP3). Three unrelated individuals with clinical diagnosis of PPD were included in this study. Detailed clinicoradiological evaluation was attempted with brief literature review. Exome sequencing was performed in all three cases. All the pathogenic variations detected in our cohort were located in exons 2 and 4 of WISP3 gene. Though the clinicoradiological features are already well described, this study in north India highlights the occurrence of a recurring pathogenic variant. The c.740_741del variant was a recurrent pathogenic variant seen in all three patients in this cohort. This may be a common pathogenic variant in the North Indian population; however, a larger cohort needs to be studied before drawing final conclusions. A proper molecular diagnosis is a must to end the diagnostic odyssey, safeguarding patients with PPRD from unnecessary use of drugs like corticosteroids.

Keywords: CCN6; compound heterozygous; interphalangeal joint; mutation; skeletal dysplasia.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Phenotypic features and radiographs in patient 1 showing ( A ) interphalangeal joint (IPJ) involvement, ( B ) elbow joint involvement, ( C ) reduced IPJ space with large epiphyses and widened metaphyses of metacarpals and phalanges, ( D ) genu varum at right knee joint, ( E ) platyspondyly at the lumbosacral spine, ( F ) typical hip joint involvement with reduced joint space, large capital femoral epiphyses, short femoral neck, and irregular acetabular roofs. Skeletal changes as in Figure legends are indicated by red arrows.
Fig. 2
Fig. 2
Multiple joint deformities in patient 2 showing ( A ) genu valgum, ( B ) deformity at left elbow joint, ( C ) typical interphalangeal joint involvement, ( D ) platyspondyly seen in spinal radiograph, ( E ) reduced IPJ space with epiphyseal changes at phalanges suggestive of progressive pseudorheumatoid dysplasia, ( F ) characteristic varus deformity in younger male sibling of patient 2.
Fig. 3
Fig. 3
Radiographs in patient 3 showing ( A ) interphalangeal joint involvement typical of progressive pseudorheumatoid dysplasia; ( B ) reduced hip joint spaces, large capital femoral epiphyses, short and broad femoral necks, and irregular acetabular roofs. Irregular iliac crests are also seen; ( C ) platyspondyly with erosive changes at the superior and inferior articular cartilages.
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