Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2020; 8(23): 6197-6205
Published online Dec 6, 2020. doi: 10.12998/wjcc.v8.i23.6197
Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report
Tiao Lin, Xin-Yu Li, Chang-Ye Zou, Wei-Wei Liu, Jun-Fan Lin, Xin-Xin Zhang, Si-Qi Zhao, Xian-Biao Xie, Gang Huang, Jun-Qiang Yin, Jing-Nan Shen
Tiao Lin, Chang-Ye Zou, Xian-Biao Xie, Gang Huang, Jun-Qiang Yin, Jing-Nan Shen, Department of Musculoskeletal Oncology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China
Xin-Yu Li, Wei-Wei Liu, Jun-Fan Lin, Xin-Xin Zhang, Si-Qi Zhao, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China
Author contributions: Shen JN, Lin T, and Yin JQ contributed to conceptualization; Lin T, Zou CY, Liu WW, Li XY, Lin JF, Zhang XX, and Zhao SQ contributed to investigation; Lin T and Li XY contributed to writing the original draft; Lin T, Liu WW, Li XY, Lin JF, Zhang XX, Zhao SQ, Zou CY, Xie XB, and Huang G contributed to writing, reviewing, and editing the article; All authors approved the final manuscript.
Supported by National Natural Science Foundation of China, No. 81703017; The Science and Technology Projects of Guangzhou, China, No. 201804010080.
Informed consent statement: Informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
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
Received: August 9, 2020
Peer-review started: August 9, 2020
First decision: September 12, 2020
Revised: September 27, 2020
Accepted: October 26, 2020
Article in press: October 26, 2020
Published online: December 6, 2020
Processing time: 101 Days and 1.2 Hours
Abstract
BACKGROUND

Polyostotic fibrous dysplasia (PFD) is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue. The etiology of PFD is unclear, but it is generally thought to be caused by sporadic, post-zygotic mutations in the GNAS gene. Herein, we report the case of a young female with bone pain and lesions consistent with PFD, unique physical findings, and gene mutations.

CASE SUMMARY

A 27-year-old female presented with unbearable bone pain in her left foot for 4 years. Multiple bone lesions were detected by radiographic examinations, and a diagnosis of PFD was made after a biopsy of her left calcaneus with symptoms including pre-axial polydactyly on her left hand and severe ophthalmological problems such as high myopia, vitreous opacity, and choroidal atrophy. Her serum cortisol level was high, consistent with Cushing syndrome. Due to consanguineous marriage of her grandparents, boosted whole exome screening was performed to identify gene mutations. The results revealed mutations in HSPG2 and RIMS1, which may be contributing factors to her unique findings.

CONCLUSION

The unique findings in this patient with PFD may be related to mutations in the HSPG2 and RIMS1 genes.

Keywords: 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.