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[Progressive pseudorheumatoid chondrodysplasia. Case report].

N Pedini¹, P Putz

¹Département de Chirurgie Orthopédique, C.H.U. Brugmann, Site Victor Horta. nicolas.pedini@ulb.ac.be

Revue Medicale De Bruxelles

|February 5, 2011

Summary

Progressive pseudorheumatoid chondrodysplasia is a rare genetic disorder causing early joint degeneration. This case highlights the need for joint replacement surgery in affected adolescents.

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Area of Science:

Genetics
Orthopedics
Rheumatology

Background:

Progressive pseudorheumatoid chondrodysplasia (PPC) is an autosomal recessive disorder.
It is characterized by early articular cartilage lysis and joint degeneration.
PPC leads to significant motor disability from childhood due to joint pain, stiffness, and swelling.

Observation:

A 17-year-old patient required bilateral total hip and knee prostheses.
Radiographs revealed severe, multifocal degenerative joint changes atypical for the patient's age.
The condition primarily affects joints in the hands, hips, elbows, and knees.

Findings:

The genetic mutation identified is in the WISP 3 gene on chromosome 6.
WISP 3 is actively expressed by articular chondrocytes.
Differential diagnosis includes juvenile rheumatoid arthritis and other pediatric rheumatologic/autoimmune diseases.

Implications:

Symptomatic treatment can manage early symptoms.
Joint replacement surgery is often necessary for affected individuals after growth completion.
Understanding the genetic basis of PPC aids in diagnosis and management strategies.