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Progressive pseudorheumatoid dysplasia: a case series report
1Department of Endocrinology, Children's Hospital Capital Institute of Pediatrics, Beijing, China.
Translational Pediatrics
|August 25, 2021
Summary
Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic disorder. Identifying mutations in the WISP3 gene aids in early diagnosis, preventing misdiagnosis and unnecessary treatments.
Area of Science:
- Genetics
- Orthopedics
- Pediatrics
Background:
- Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive, noninflammatory arthropathy.
- Diagnosis of PPRD is challenging, often leading to delayed identification and misdiagnosis.
Observation:
- Three unrelated children with PPRD were retrospectively studied, all initially misdiagnosed with conditions like juvenile rheumatoid arthritis.
- Patients experienced diagnostic delays ranging from 3 to 8 years.
- Clinical and radiological features included noninflammatory polyarticular enlargement, particularly in small joints, and characteristic vertebral and metaphyseal changes.
Findings:
- Whole-exome sequencing identified four mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene.
- Three previously identified mutations and one novel mutation (c.271delC) were found.
- Genetic confirmation of WISP3 mutations is crucial for accurate PPRD diagnosis.
Implications:
- Early genetic diagnosis of PPRD can prevent misdiagnosis and avoid inappropriate treatments such as growth hormone therapy.
- Accurate diagnosis facilitates appropriate patient management and genetic counseling.
- Understanding WISP3 mutations advances the genetic basis of skeletal dysplasias.
