| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Orthopedics |
| Manuscript Type |
Case Report |
| Article Title |
Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Tiao Lin, Xin-Yu Liu, Chang-Ye Zou, Wei-Wei Liu, Jun-Fan Lin, Xin-Xin Zhang, Si-Qi Zhao, Xian-Biao Xie, Gang Huang, Jun-Qiang Yin and Jing-Nan Shen |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
81703017 |
| The Science and Technology Projects of Guangzhou, China |
201804010080 |
|
| Corresponding Author |
Jing-Nan Shen, MD, PhD, Full Professor, Department of Musculoskeletal Oncology, The First Affiliated Hospital of Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, Guangdong Province, China. shenjn@sysu.edu.cn |
| Key Words |
Polyostotic fibrous dysplasia; Genetic mutation; Hypercortisolism; Drug resistance; Ophthalmological problems; Case report |
| Core Tip |
Polyostotic fibrous dysplasia is an uncommon developmental bone disease. It mostly presents as progressive fibrous dysplasia with decreased skeletal strength and increased bone pain. Herein, we report the case of a 27-year-old female suffering multiple-sites bone pain on the left ischium, fibula, talus, and calcaneus with extreme high serum cortisol level, which might explain her Cushing syndrome. Preaxial polydactyly on her left hand and severe ophthalmological problems were also found in this patient. Boosted whole exome screening revealed unique gene mutations in HSPG2 and RIMS1 that may contribute to her symptoms. |
| Publish Date |
2020-12-04 09:57 |
| Citation |
Lin T, Li XY, Zou CY, Liu WW, Lin JF, Zhang XX, Zhao SQ, Xie XB, Huang G, Yin JQ, Shen JN. Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report. World J Clin Cases 2020; 8(23): 6197-6205 |
| URL |
https://www.wjgnet.com/2307-8960/full/v8/i23/6197.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v8.i23.6197 |
