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Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
  1. Sri Lakshmi Sathiyaseelan,
  2. Kavita Krishna,
  3. Deepti Agarwal and
  4. Jitendra Shankarlal Oswal
  1. Clinical Immunology and Rheumatology, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, Maharashtra, India
  1. Correspondence to Dr Jitendra Shankarlal Oswal; jitendra.oswal{at}bharatividyapeeth.edu

Abstract

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease caused by mutation in proteoglycan 4 (PRG4) gene on chromosome 1q25-q31. We faced a dilemma and delay in diagnosis in two sisters. The elder sister had pericardial effusion with constrictive pericarditis, underwent pericardiectomy and received empirical treatment for suspected tuberculosis. After 2 years, she developed bilateral knee swelling with restriction of movement. At the same time, her younger sister also presented with bilateral knee swelling which aroused the suspicion of genetic disease. The whole-genome sequencing revealed homozygous PRG4 mutation suggestive of CACP syndrome.

  • Connective tissue disease
  • Congenital disorders

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Footnotes

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  • Contributors SLS, DA and JSO were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content. JSO and KK gave final approval of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.