Bone fracture after minor trauma in Pyle's disease: A rare case in an adult.

Abstract

Pyle's disease (PD) is a rare autosomal recessive metaphyseal dysplasia with approximately 30 reported cases and has recently gained interest due to its association with specific genes. While most cases are diagnosed in childhood and are asymptomatic, we present the case of a 39-year-old woman who presented to the Emergency Department with left knee pain, patellar fracture, and "Erlenmeyer flask" deformity. Retrospective review of imaging studies and medical history revealed the symmetric and systemic nature of the skeletal disorder, confirming the diagnosis of PD. Familiarity with this disease is crucial for optimal patient management, and the radiologist plays a crucial role in its diagnosis.