Arboleya Luis, Queiro Rubén, Alperi Mercedes, Lorenzo José Andrés, Ballina Javier
Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
Reumatol Clin (Engl Ed). 2020 Jan-Feb;16(1):56-58. doi: 10.1016/j.reuma.2018.01.002. Epub 2018 Feb 17.
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.
派尔氏病（在线孟德尔人类遗传数据库编号265900）是一种病程良性的干骺端发育异常，呈常染色体隐性遗传模式。迄今为止，已报道约30例确诊病例。自2016年发现该疾病与编码sFRP蛋白（一种已知的Wnt信号通路抑制剂）的基因突变有关以来，其病因已为人所知。我们报告了一例58岁男性病例，根据其临床和影像学特征诊断为派尔氏病，其表型提示皮质骨和小梁骨稳态存在差异调控。
