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Progressive pseudorheumatoid dysplasia: a case series report
1Department of Endocrinology, Children's Hospital Capital Institute of Pediatrics, Beijing, China.
Abstract:
rogressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, noninflammatory arthropathy. Several cases have been reported worldwide; however, diagnosis remains challenging. Three unrelated children with PPRD were retrospectively studied. All three patients in this study were initially misdiagnosed. The misdiagnoses included juvenile rheumatoid arthritis, myodystrophy and idiopathic short stature. The time from the onset of symptoms to a definitive diagnosis was 3 to 8 years. Clinical signs and radiological phenotypes were analyzed carefully, and they were all consistent with the characteristics of PPRD and noninflammatory polyarticular enlargement. The small joints of both the hands and lower limbs are the most affected. The imaging findings of the patients were flat vertebrae with beak- or bullet-like changes in front of the cone and peripheral metaphysis widening. DNA samples obtained from the family were sequenced to identify the causal gene using whole-exome sequencing (WES). Four Wnt1-inducible signaling pathway protein 3 (WISP3) mutations were verified. c.271delC was not reported previously. The other three mutations, namely, c.136C>T (p. Gln46*), c.667T>G (p. Cys223Gly) and c.589+2T>C, were previously identified. All three patients had a long journey to diagnosis. Early genetic diagnosis can help prevent unnecessary treatments and procedures in patients. Growth hormone is not a good choice for treatment.
Insights
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.
