Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients.

Grewal, Simran; Kilic, Özgür; Savci-Heijink, C Dilara; Kloen, Peter · J Orthop · 2019

case_series · Level IV

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Abstract

Pycnodysostosis is an autosomal recessive disease caused by a gene mutation leading cathepsin K deficiency. Pathological fractures of the long bones are common, but guidelines on fracture treatment in these patients are still lacking. We have treated 5 fractures in 2 pediatric pycnodysostosis patients. We hypothesize that pycnodysostosis patients have an incomplete remodeling process in fracture healing because of cathepsin K deficiency. Therefore, to minimize the role of endochondral bone formation (indirect) after a fracture, it seems prudent to strive for direct bone healing (intramembranous) instead of indirect bone healing. Open reduction with internal fixation should be the goal.