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Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature
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.
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869386/ https://www.ncbi.nlm.nih.gov/pubmed/33598273 http://dx.doi.org/10.1002/ccr3.3611 |
| _version_ | 1783648621012451328 |
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| author | Gaudio, Agostino Xourafa, Anastasia Rapisarda, Rosario Gorgone, Cristina Gnoli, Maria Pedrini, Elena Sangiorgi, Luca Catalano, Antonino Zanoli, Luca Mattina, Teresa Castellino, Pietro |
| author_facet | Gaudio, Agostino Xourafa, Anastasia Rapisarda, Rosario Gorgone, Cristina Gnoli, Maria Pedrini, Elena Sangiorgi, Luca Catalano, Antonino Zanoli, Luca Mattina, Teresa Castellino, Pietro |
| author_sort | Gaudio, Agostino |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7869386 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-78693862021-02-16 Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature Gaudio, Agostino Xourafa, Anastasia Rapisarda, Rosario Gorgone, Cristina Gnoli, Maria Pedrini, Elena Sangiorgi, Luca Catalano, Antonino Zanoli, Luca Mattina, Teresa Castellino, Pietro Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-12-24 /pmc/articles/PMC7869386/ /pubmed/33598273 http://dx.doi.org/10.1002/ccr3.3611 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Case Reports Gaudio, Agostino Xourafa, Anastasia Rapisarda, Rosario Gorgone, Cristina Gnoli, Maria Pedrini, Elena Sangiorgi, Luca Catalano, Antonino Zanoli, Luca Mattina, Teresa Castellino, Pietro Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature |
| title | Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature |
| title_full | Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature |
| title_fullStr | Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature |
| title_full_unstemmed | Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature |
| title_short | Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature |
| title_sort | familiar osteopoikilosis: case report with differential diagnosis and review of the literature |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869386/ https://www.ncbi.nlm.nih.gov/pubmed/33598273 http://dx.doi.org/10.1002/ccr3.3611 |
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