Hereditary multiple exostoses: A case report and literature review
| Autor: | Thi Hien Ha, Thi Minh Thi Ha, Mao Nguyen Van, Trong Binh Le, Nghi Thanh Nhan Le, Thao Nguyen Thanh, Dac Hong An Ngo |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | SAGE Open Medical Case Reports, Vol 10 (2022) |
| Druh dokumentu: | article |
| ISSN: | 2050-313X 2050313X |
| DOI: | 10.1177/2050313X221103732 |
| Popis: | Osteochondroma is the most common bone tumor representing 20%–50% of all benign bone tumors and 10%–15% of all bone tumors. Osteochondroma has similar radiological appearance in both solitary and multiple forms; the latter is an autosomal dominant disorder termed hereditary multiple exostoses. Associated complications of osteochondroma include deformity, fracture, neurovascular compromise, bursa formation, and malignant transformation. Measurement of the cartilage cap thickness is an important index suggesting secondary malignancy of osteochondroma. The upper limit of cap thickness after skeletal maturation is 1.5 cm which can be reliably measured on ultrasound or magnetic resonance imaging. Hereditary multiple exostoses are linked to the mutations of different exostoses genes located on chromosome 8, 11, and 19. We reported cases of two siblings presented with multiple osteochondromas managed by surgical excision. We evaluated their clinical and radiological presentation, genetic correlations and compared with the literature. |
| Databáze: | Directory of Open Access Journals |
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