Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis.
Enfermedad de Pyle: un modelo humano de homeostasis corticotrabecular diferenciada.
Cortical bone
Enfermedad de Pyle
Hueso cortical
Hueso trabecular
Pyle's disease
Trabecular bone
sFRP4
Journal
Reumatologia clinica
ISSN: 2173-5743
Titre abrégé: Reumatol Clin (Engl Ed)
Pays: Spain
ID NLM: 101717526
Informations de publication
Date de publication:
Historique:
received:
19
10
2017
revised:
07
12
2017
accepted:
10
01
2018
pubmed:
22
2
2018
medline:
15
12
2020
entrez:
22
2
2018
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 29463445
pii: S1699-258X(18)30022-6
doi: 10.1016/j.reuma.2018.01.002
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
spa
Sous-ensembles de citation
IM
Pagination
56-58Informations de copyright
Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.