What is the Utility of Whole Body Imaging for Screening Patients With Craniofacial Fibrous Dysplasia?

Whole body imaging is commonly performed in patients with fibrous dysplasia (FD) to screen for additional lesions. However, the frequency of newly-detected lesions in patients presenting with isolated craniofacial FD is unclear. The purpose of this study was to evaluate the frequency of newly-detected FD lesions on whole body imaging in patients with craniofacial FD and no known extracraniofacial lesions or symptoms. This was a retrospective observational cohort study at a tertiary children's hospital in an urban setting. The study population consisted of patients with craniofacial FD who underwent whole body imaging with technetium-99m (Tc-99m) bone scintigraphy or fluorine-18 sodium fluoride positron emission tomography/computed tomography (F-18 NaF PET/CT). Patients with previously identified extracraniofacial lesions, symptoms, or McCune-Albright syndrome were excluded. The primary outcome was the frequency of newly-detected extracraniofacial FD lesions. Fifteen subjects were included (80% female). Mean age at FD diagnosis was 9.6±4.3 years, and mean age at imaging was 10.4±4.2 years. Tc-99m bone scintigraphy was the most common imaging modality (86.7%). Newly-detected extracraniofacial FD lesions were observed in 1 of 15 subjects (6.7%). Two additional subjects (13.3%) had incidental skeletal findings related to recent traumatic injuries. In patients presumed to have isolated craniofacial FD, whole body imaging identified a low frequency of extracraniofacial skeletal lesions. These findings suggest that routine screening may be considered selectively based on clinical history and physical examination. Further investigation is required to develop evidence-based screening guidelines.