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

Agostino Gaudio; Anastasia Xourafa; Rosario Rapisarda; Cristina Gorgone; Maria Gnoli; Elena Pedrini; Luca Sangiorgi; Antonino Catalano; Luca Zanoli; Teresa Mattina; Pietro Castellino

doi:10.1002/ccr3.3611

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

Clin Case Rep. 2020 Dec 24;9(2):922-926. doi: 10.1002/ccr3.3611. eCollection 2021 Feb.

Affiliations

¹ Department of Clinical and Experimental Medicine University of Catania Catania Italy.
² Department BIOMETEC University of Catania Catania Italy.
³ Department of Medical Genetics and Rare Orthopaedic Diseases IRCCS, Istituto Ortopedico Rizzoli Bologna Italy.
⁴ Department of Medical Genetics and Rare Orthopaedic Diseases & CLIBI Laboratory IRCCS, Istituto Ortopedico Rizzoli Bologna Italy.
⁵ Department of Clinical and Experimental Medicine University of Messina Messina Italy.

Abstract

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.

Keywords: LEMD3 gene; enostoses; osteopoikilosis; sclerosing bone dysplasia.

Publication types

Case Reports