Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis

Abstract

Pyle's disease (OMIN number 265900) is a metaphyseal dysplasia of benign course, inherited with an autosomal recessive pattern. Some 30 genuine cases have been described so far. The cause of this process has been known since 2016, when its relationship to mutations in the gene encoding the sFRP protein, a known inhibitor of the Wnt pathway, was discovered. We report the case of a 58-year-old man, diagnosed with Pyle's disease based on his clinical and radiographic characteristics, whose phenotype suggested a differential control of cortical and trabecular bone homeostasis.

Keywords: Cortical bone; Enfermedad de Pyle; Hueso cortical; Hueso trabecular; Pyle's disease; Trabecular bone; sFRP4.