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.
Grewal, S., Kilic, Ö., Savci-Heijink, C. D., & Kloen, P. (2019). Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients. Journal of Orthopaedics, 16(5), 373-377. https://doi.org/10.1016/j.jor.2019.03.022