Open AccessFamiliar osteopoikilosis: Case report with differential diagnosis and review of the literature
Author(s) -
Gaudio Agostino,
Xourafa Anastasia,
Rapisarda Rosario,
Gorgone Cristina,
Gnoli Maria,
Pedrini Elena,
Sangiorgi Luca,
Catalano Antonino,
Zanoli Luca,
Mattina Teresa,
Castellino Pietro
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3611
Subject(s) - medicine , differential diagnosis , rare disease , pathology , metabolic bone disease , disease , dermatology , osteoporosis
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.