Background/Objectives: Pycnodysostosis is a rare genetic disorder causing skeletal dysplasia. It is determined by a gene mutation leading to cathepsin K deficiency and predisposes a patient to osteosclerosis, resulting in increased bone fragility. The altered bone quality typical of this disease is responsible for an increased risk of fractures. The purpose of our study was to evaluate the orthopedic manifestations and potential pitfalls in the surgical treatments of pathological fractures in a series of patients treated in our institution who were affected by pycnodysostosis. Methods: We retrospectively evaluated clinical and radiographic characteristics of five patients with pycnodysostosis treated for pathological fractures at our hospital in the past 5 years. Results: Two male and three female patients were included in this study. Four patients had a family history of pycnodysostosis. All the patients were of short stature, but only two underwent growth hormone treatment. All the patients experienced fractures, mostly in their lower limbs and occurring as a result of low-energy trauma. Most of the patients experienced either consolidation delay or nonunion. Conclusions: The orthopedic management of fractures in patients with pycnodysostosis poses an ongoing challenge for orthopedic surgeons. The fact that the bone is simultaneously sclerotic and brittle makes any orthopedic surgical treatment challenging and at a high risk of nonunion in any case.
(1) Background: Enchondroma is one of the most common primary tumors of the hand. Usually asymptomatic, it can present with pain, deformity, and sometimes pathologic fractures. Surgical treatment is advised in these cases. Curettage is the basic treatment, but there is no consensus in the literature regarding post-void filling. The aim of our study is to present simple curettage and early mobilization as a safe and effective treatment. (2) Methods: We retrospectively analyzed patients treated at our center between 2020 and 2024. Each patient was treated with simple curettage and early mobilization. We collected demographic data and follow-up data. (3) Conclusions: We recorded no complications in our cohort, pointing out that our method is safe and reliable without any kind of immobilization. Bone grafts and other methods such as cement are good options but should be considered in specific cases.
2 April 2026 in European Journal of Orthopaedic Surgery & Traumatology