Juvenile idiopathic arthritis or skeletal dysplasia: first case report of camptodactyly-arthropathy-coxa vara-pericarditis from Iran

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an inherited autosomal recessive disorder resulting from a mutation in the PRG4 gene located on chromosome one. This mutation leads to either a deficiency or dysfunction of a glycoprotein known as lubricin, which plays a crucial role in inhibiting synovial inflammation and lubricating synovial joints and visceral cavities. CACP syndrome is characterized by a tetrad of manifestations, including congenital or early-onset camptodactyly, childhood-onset non-inflammatory arthropathy accompanied by synovial hyperplasia, coxa vara deformity, and non-inflammatory pericardial effusion. This case report details the medical history of a 12-year-old boy diagnosed with CACP syndrome, following the identification of a novel homozygous frameshift variant in the PRG4 gene. The patient first exhibited symptoms at 10 days of age with respiratory distress due to pleural effusion and later underwent pericardiectomy for significant pericardial effusion. At age 2, progressive joint effusion led to an initial diagnosis of juvenile idiopathic arthritis. Despite receiving treatment modalities such as non-steroidal anti-inflammatory drugs (NSAIDs), methotrexate, and corticosteroids, the patient experienced minimal improvement. The persistence of progressive joint manifestations, coupled with a lack of favorable response to treatment, prompted further evaluations, which ultimately confirmed the diagnosis of CACP syndrome. This case illustrates diagnostic challenges and rare early cardiac involvement. It discusses the differential diagnosis from juvenile idiopathic arthritis and skeletal dysplasia, as well as the role of genetic testing in unresolved cases.