Identifying Pyle’s metaphyseal dysplasia: An incidental finding of skeletal pathology on a dental checkup

Abstract

Pyle’s disease, also known as familial metaphyseal dysplasia, is a rare autosomal recessive genetic disorder that primarily affects the skeletal system, particularly in children and adolescents. Furthermore, it is characterized by distinctive radiographic features, including Erlenmeyer flask deformity and metaphyseal widening. Pyle’s disease often goes underdiagnosed because of its mild clinical manifestations. This case report details a 15- year-old female patient presenting with retained milk teeth and unerupted permanent teeth, alongside notable skeletal abnormalities, including genu valgum and kyphosis. Clinical and radiographic evaluations revealed considerable dental anomalies, including multiple impacted permanent teeth and mild dysmorphic facial features. Although genetic testing was not performed in this case, a diagnosis of Pyle’s disease was made based on the clinical presentation and radiographic findings. This case highlights the importance of recognizing dental manifestations as potential indicators of underlying skeletal dysplasias or other systemic conditions. Prompt diagnosis and early intervention could enhance the quality of life and treatment outcomes in such cases.