Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy

Rheumatol Int. 2004 Jan;24(1):53-6. doi: 10.1007/s00296-003-0341-0. Epub 2003 Jun 18.

Abstract

A 14-year-old boy presented with a 10-year history of the "sicca" form of seronegative juvenile idiopathic polyarthritis. Severely limited range of motion, pain, and capsular swelling in both small and large weight-bearing joints left him wheelchair-bound. Erythrocyte sedimentation rate and C-reactive protein were normal. Two-phase bone scan revealed tracer uptake of almost every joint at both early and late time points, indicating pathologic exudation and enhanced bone metabolism consistent with severe arthritis. However, radiographic studies revealed no erosive arthropathy but severe osteopenia, dysplastic bone changes, mega os trigonum, and platyspondylia. A magnetic resonance imaging (MRI) scan of the hips showed no signs of synovitis, pannus, or effusion but cartilage irregularities and subchondral cysts. These findings strongly suggested the diagnosis of progressive pseudorheumatoid dysplasia of childhood, an autosomal-recessive disorder of cartilage homeostasis. The patient carries a novel homozygous two-nucleotide deletion in exon 4 of the WISP3 gene. This genetic disorder is an important differential diagnosis of sicca polyarthritis.

MeSH terms

  • Adolescent
  • Arthritis / diagnostic imaging*
  • Arthritis / genetics
  • Arthritis / pathology*
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • CCN Intercellular Signaling Proteins
  • Cartilage Diseases / diagnostic imaging*
  • Cartilage Diseases / genetics
  • Cartilage Diseases / pathology*
  • Diagnosis, Differential
  • Disease Progression
  • Genes, Recessive
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Insulin-Like Growth Factor Binding Proteins / deficiency
  • Insulin-Like Growth Factor Binding Proteins / genetics
  • Joints / diagnostic imaging
  • Joints / pathology*
  • Joints / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Neoplasm Proteins / deficiency
  • Neoplasm Proteins / genetics
  • Radiography
  • Radionuclide Imaging
  • Sjogren's Syndrome / diagnosis

Substances

  • CCN Intercellular Signaling Proteins
  • CCN6 protein, human
  • Insulin-Like Growth Factor Binding Proteins
  • Neoplasm Proteins