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

Abstract

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

• enostoses
• LEMD3 gene
• osteopoikilosis
• sclerosing bone dysplasia