Focal fibrocartilaginous dysplasia in the phalanges

Abstract

Introduction:

Focal fibrocartilaginous dysplasia is a rare, benign bone lesion that causes lateral angulation deformity of long bones in children, predominantly affecting the proximal tibia and distal femur. This study aims to present a case series of clinodactyly caused by focal fibrocartilaginous dysplasia in the phalanges and summarize its clinical and imaging features.

Methods:

Twenty cases (29 phalanges) were retrospectively reviewed. The diagnosis was confirmed radiographically in all patients. Clinical and imaging data, including age at presentation, gender, clinical presentation, affected site, clinical course and deformity angle were collected.

Results:

The cohort comprised 15 boys and five girls, with lateral angulation deformity as the predominant clinical manifestation. The mean age at presentation was 61 (range 6–132) months. Both hands were involved in seven patients. The involved phalanges included seven proximal and 22 middle phalanges. The median follow-up was 24 (range 12–60) months. Sixteen patients were followed up without intervention, with a deformity angle of 21° (SD 8°) at first presentation and 21° (SD 8°) at the last follow-up. Four patients received corrective osteotomy for aesthetic concerns, reducing the deformity from 30° (SD 14°) preoperatively to 5° (SD 2°) at the latest follow-up. No recurrence or progression was observed.

Conclusion:

Phalangeal focal fibrocartilaginous dysplasia is an important cause of clinodactyly. The deformity remains stable without functional impairment. Surgical intervention is considered when patients’ parents seek to address aesthetic concerns.

Level of evidence:

IV.