Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.

Detalles Bibliográficos
Autores principales: Gaudio, Agostino, Xourafa, Anastasia, Rapisarda, Rosario, Gorgone, Cristina, Gnoli, Maria, Pedrini, Elena, Sangiorgi, Luca, Catalano, Antonino, Zanoli, Luca, Mattina, Teresa, Castellino, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869386/
https://www.ncbi.nlm.nih.gov/pubmed/33598273
http://dx.doi.org/10.1002/ccr3.3611
Descripción
Sumario:Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.

Ejemplares similares