Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature
| Autor: | Maria Gnoli, Teresa Mattina, Agostino Gaudio, Cristina Gorgone, Luca Sangiorgi, Pietro Castellino, Elena Pedrini, Anastasia Xourafa, Antonino Catalano, Luca Zanoli, Rosario Rapisarda |
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| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty Bone disease lcsh:Medicine Lamellar bone Case Report Case Reports 030204 cardiovascular system & hematology 03 medical and health sciences 0302 clinical medicine Medicine lcsh:R5-920 sclerosing bone dysplasia business.industry lcsh:R osteopoikilosis General Medicine enostoses LEMD3 gene medicine.disease 030220 oncology & carcinogenesis Osteopoikilosis Differential diagnosis lcsh:Medicine (General) business |
| Zdroj: | Clinical Case Reports Clinical Case Reports, Vol 9, Iss 2, Pp 922-926 (2021) |
| ISSN: | 2050-0904 |
| DOI: | 10.1002/ccr3.3611 |
| Popis: | 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. Osteopoikilosis is a benign and asymptomatic disease whose diagnosis is usually an incidental finding during a radiological exam. A correct and precocious diagnosis is important to avoid personal and familiar distress and useless further exams. |
| Databáze: | OpenAIRE |
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