Pycnodysostosis: A Rare Case of Pathological Fractures

Pycnodysostosis is a rare autosomal recessive disorder marked by short stature, distinctive facial characteristics, increased bone fragility, and acro - osteolysis. This case study describes a 50 - year - old female presenting with multiple pathological fractures and characteristic facial features, confirmed by genetic testing identifying a mutation in the CTSK gene. Radiological investigations revealed fractures in the tibia, fibula, and ribs. The patient was managed with bisphosphonates and supportive measures. This case highlights the importance of considering pycnodysostosis in patients with recurrent fractures and distinct craniofacial abnormalities to ensure timely diagnosis and appropriate management. Significance of the article: This article is significant because it documents a rare presentation of pycnodysostosis providing valuable insights for clinicians in diagnosing and managing similar cases. It emphasizes the need for awareness of atypical presentations to ensure timely and appropriate treatment. Purpose of article: The purpose of this article is to report a case of pycnodysostosis presenting as multiple fractures and to highlight the importance of considering this rare condition in the differential diagnosis of patients with similar symptoms.