Open AccessDiscontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report
Author(s) -
Tiantian Lin,
Xinyu Li,
Changye Zou,
Weiwei Liu,
Junfan Lin,
Xinxin Zhang,
Siqi Zhao,
Xianbiao Xie,
Gang Huang,
Junqiang Yin,
Jingnan Shen
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i23.6197
Subject(s) - medicine , polyostotic fibrous dysplasia , pathology , fibrous dysplasia
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.