Natural history of hyperplastic callus formation in osteogenesis imperfecta type V

Abstract

Hyperplastic callus formation was assessed in 23 patients with osteogenesis imperfecta type V. Hyperplastic callus mostly affected long bones in the lower extremities and occurred predominantly during phases of rapid growth.

Introduction: Hyperplastic callus (HPC) formation is one of the most conspicuous features of osteogenesis imperfecta (OI) type V, but the natural history of HPC has not been well characterized.

Materials and methods: In this retrospective single-center study, we assessed HPC in 23 OI type V patients (9 females and 14 males).

Results: Fifteen patients (65%) had HPC at 48 skeletal sites, 30 of which affected the lower limbs. The number of HPC sites per patient ranged from 0 to 7, with an average of 2.6 for men and 1.1 for women (p = 0.047 for this sex difference; t-test). New HPC formation was observed both after fractures and outside of the context of fractures. Only a minority of lower limb fractures (26%) precipitated HPC formation. After an initial enlargement phase, HPC lesions usually stabilized, but could also resolve completely (n = 2) or progress and lead to bone deformation. The most common complication of HPC was a fracture through the lesion (n = 7). Neither pamidronate nor indomethacin seemed to influence the course of HPC.

Conclusions: HPC is a potentially serious complication of OI type V. Given the rarity of the disorder, treatment studies will require multicenter collaborations.