Related Experiment Videos
Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis
Luis Arboleya1, Rubén Queiro1, Mercedes Alperi1
1Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
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.
Insights
Pyle's disease, a rare genetic bone disorder, is linked to mutations in the sFRP gene, which regulates bone homeostasis. This case highlights a potential differential control of bone density in affected individuals.
Area of Science:
- Genetics
- Orthopedics
- Molecular Biology
Background:
- Pyle's disease is an autosomal recessive metaphyseal dysplasia.
- Approximately 30 cases have been documented globally.
- Mutations in the sFRP gene, an inhibitor of the Wnt pathway, were identified as the cause in 2016.