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

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.

SUBMITTER: Gaudio A

PROVIDER: S-EPMC7869386 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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

Gaudio Agostino A Xourafa Anastasia A Rapisarda Rosario R Gorgone Cristina C Gnoli Maria M Pedrini Elena E Sangiorgi Luca L Catalano Antonino A Zanoli Luca L Mattina Teresa T Castellino Pietro P

Clinical case reports 20201224 2

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. ...[more]

PMID: 33598273

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