J Korean Med Sci.  2004 Dec;19(6):907-910. 10.3346/jkms.2004.19.6.907.

Camptodactyly, Arthropathy, Coxa vara, Pericarditis (CACP) Syndrome: A Case Report

• Choi BR
• Lim YH
• Joo KB
• Paik SS
• Kim NS
• Lee JK
• Yoo DH

• KMID: 1778580
• DOI: http://doi.org/10.3346/jkms.2004.19.6.907

Abstract

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is characterized by congenital or early-onset camptodactyly, childhood-onset noninflammatory arthropathy associated with synovial hyperplasia. Some patients have pro-gressive coxa vara deformity and/or noninflammatory pericardial effusion. CACP is inherited as an autosomal recessive mode and the disease gene is assigned to a 1.9-cM interval on human chromosome 1q25-31. We describe a 10-yr-old boy who has typical features of CACP without familial association.

Keyword

Joint Diseases; Arthropathy; Osteoarthritis, Hip; Pericarditis; Synovial Membrane

MeSH Terms

Adolescent
Fingers/*abnormalities
Hip Joint/*abnormalities
Humans
Joint Diseases/*congenital/*diagnosis
Male
Pericarditis/*congenital/*diagnosis
Syndrome
Toes/*abnormalities

Figure

• 

  Fig. 1 Synovial biopsy reveals hyperplasia of synoviocytes without evidence of inflammation (H&E, ×200).

• 

  Fig. 2 (A) Photograph of both knees shows swelling. (B) Photograph of both hands shows camptodactyly. (C) Both feet show flexion deformity at the left 2nd PIP joint.

• 

  Fig. 3 The antero-posterior radiograph of pelvis shows coxa vara and short broad femoral neck.

• 

  Fig. 4 (A). The plain radiography of both hands shows flexion at the 5th PIP joint of both hands and questionable flexion at the 2nd PIP joint of left hand. (B) Radiography of both feet shows flexion at the left 2nd PIP joint.

• 

  Fig. 5 Sagittal T1 MR image of knee with gadolinium enhancement shows thin rim-like enhancement of the fluid filled bursae.

• 

  Fig. 6 Echocardiogram shows moderate amount of pericardial effusion posterior to left ventricle at apical 4 chamber view.

Reference

1. Bahabri SA, Suwairi WM, Laxer RM, Polinkovsky A, Dalaan AA, Warman ML. The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum. 1998. 41:730–735.

2. Martinez-Lavin M, Buendia A, Delgado E, Reyes P, Amigo MC, Sabanes J, Zghaib A, Attie F, Salinas L. A familial syndrome of pericarditis, arthritis, and camptodactyly. N Engl J Med. 1983. 309:224–225.

3. Engber WD, Flatt AE. Camptodactyly: an analysis of sixty-six patients and twenty-four operations. J Hand Surg. 1977. 2:216–224.

4. Oh SH, Kim EY, Park YB, Park SK, Yang JR. A case of Catel Manzke syndrome. J Korean Pediatr Soc. 1999. 42:1154–1158.

5. Han MG, Kim KY, Son DW, Moon HR. Pena-Shokeir I Syndrome in a newborn infant. J Korean Pediatr Soc. 1997. 40:721–725.

6. Ochi T, Iwase R, Okabe N, Fink CW, Ono K. The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly. Arthritis Rheum. 1983. 26:896–900.

7. Martin JR, Huang SN, Lacson A, Payne RH, Bridger S, Fraser FC, Neary AJ, MacLaughlin EA, Hobeika C, Lawton LJ. Congenital contractural deformities of the fingers and arthropathy. Ann Rheum Dis. 1985. 44:826–830.

8. Hugosson C, Bahabri S, McDonald P, al-Dalaan A, al-Mazyed A. Radiological features in congenital camptodactyly, familial arthropathy and coxa vara syndrome. Pediatr Radiol. 1994. 24:523–526.

9. El-Garf A, Mahmoud G, Gheith R, Abd El-Aaty G, Abd El-Aaty H. Camptodactyly, arthropathy, coxa vara, and pericarditis syndrome among Egyptians. J Rheumatol. 2003. 30:1081–1086.

10. Herve-Somma CM, Sebag GH, Prieur AM, Bonnerot V, Lallemand DP. Juvenile rheumatoid arthritis of the knee: MR evaluation with Gd-DOTA. Radiology. 1992. 182:93–98.

11. Cohen PA, Job-Deslandre CH, Lalande G, Adamsbaum C. Overview of the radiology of juvenile idiopathic arthritis (JIA). Eur J Radiol. 2000. 33:94–101.

12. Faivre L, Prieur AM, Le Merrer M, Hayem F, Penet C, Woo P, Hofer M, Dagoneau N, Sermet I, Munnich A, Cormier-Daire V. Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Am J Med Genet. 2000. 95:233–236.

13. Bulutlar G, Yazici H, Ozdogan H, Schreuder I. A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. Arthritis Rheum. 1986. 29:436–438.

14. Laxer RM, Cameron BJ, Chaisson D, Smith CR, Stein LD. The camptodactyly-arthropathy-pericarditis syndrome: case report and literature review. Arthritis Rheum. 1986. 29:439–444.

15. Verma UN, Misra R, Radhakrisnan S, Maitra SC, Agarwal SS, Singh RR. A syndrome of fibrosing pleuritis, pericarditis, and synovitis with infantile contractures of fingers and toes in 2 sisters: "familial fibrosing serositis". J Rheumatol. 1995. 22:2349–2355.

16. Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa varapericarditis syndrome. Nat Genet. 1999. 23:319–322.