Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report.

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 myopi

SUBMITTER: Lin T 

PROVIDER: S-EPMC7723713 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature