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Vol. 16. Issue 1.
Pages 56-58 (January - February 2020)
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Vol. 16. Issue 1.
Pages 56-58 (January - February 2020)
Case Report
DOI: 10.1016/j.reumae.2018.01.005
Pyle's disease: A human model of differentiated cortical and trabecular homeostasis
Enfermedad de Pyle: un modelo humano de homeostasis corticotrabecular diferenciada
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Luis Arboleya
Corresponding author
arboleya@ser.es

Corresponding author.
, Rubén Queiro, Mercedes Alperi, José Andrés Lorenzo, Javier Ballina
Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain
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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:
Pyle's disease
Cortical bone
Trabecular bone
sFRP4
Resumen

La enfermedad de Pyle (OMIN número 265900) es una displasia metafisaria de curso benigno que se hereda con un patrón autosómico recesivo. Se han descrito unos 30 casos genuinos hasta el momento. La causa de este proceso se conoce desde 2016, cuando se descubre su relación con mutaciones en el gen que codifica la proteína sFRP, un conocido inhibidor de la vía Wnt. Se presenta el caso de un varón de 58 años, diagnosticado de enfermedad de Pyle con base en sus características clínicas y radiográficas, cuyo fenotipo muestra un control diferencial de la homeostasis del hueso cortical y trabecular.

Palabras clave:
Enfermedad de Pyle
Hueso cortical
Hueso trabecular
sFRP4

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