J Korean Med Sci.  2009 Apr;24(2):326-329. 10.3346/jkms.2009.24.2.326.

Erosive Arthropathy with Osteolysis As a Typical Feature in Polyfibromatosis Syndrome: A Case Report and a Review of the Literature

• Kim SK
• Kim HJ
• Lee YH
• Suh KJ
• Park SH
• Choe JY

• KMID: 1779139
• DOI: http://doi.org/10.3346/jkms.2009.24.2.326

Abstract

Polyfibromatosis syndrome is a rare disease entity that is characterized by various clinical features such as palmar, plantar, and penile fibromatoses, keloid formations of the skin, and erosive arthropathy. Its precise pathophysiology or etiology remains unclear. In addition to distinctive diverse skin manifestations, patients with polyfibromatosis have been previously reported to show erosive arthropathy with significant limitation of movement at affected joints. However, the presence of erosive polyarthropathy in polyfibromatosis has not emphasized in previous cases. Here, we report a case of polyfibromatosis syndrome combined with painless massive structural destruction of hand and foot joints, and review the characteristics of erosive arthropathy in previous cases.

Keyword

Polyfibromatosis; Erosive Arthropathy; Magnetic Resonance Imaging

MeSH Terms

Adult
Arthrography
Diagnosis, Differential
Fibroma/*diagnosis/pathology/radiography
Foot Joints/pathology/radiography
Hand Joints/pathology/*radiography
Humans
Magnetic Resonance Imaging
Male
Metacarpophalangeal Joint/pathology/radiography
Osteolysis/*diagnosis/etiology

Figure

• 

  Fig. 1 (A) Hand radiography showing multiple erosions with sclerotic margin at the PIP and MCP joints with flexion deformities of the hand due to Dupuytren's contractures. Resorptive changes (acrolysis) at distal phalanges of both hands were also noted. (B) Coronal T1-weighted spin-echo image (TR/TE 600/29) of the right hand showed multiple bony erosions at the MCP and PIP joints and fatty replacement in soft tissue.

• 

  Fig. 2 The biopsy demonstrated fibrous changes composed of interlacing bundles of collagens and fibroblasts in deep dermis and subcutaneous tissue (H&E stain ×40).

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