Natural History and Progression of Craniofacial Fibrous Dysplasia: A Retrospective Evaluation of 114 Patients From Massachusetts General Hospital.

PURPOSE

The natural history of fibrous dysplasia (FD) is poorly understood. The purpose of this study was to identify differences in demographic, clinical, and radiographic characteristics among patients with craniofacial FD, including McCune-Albright syndrome (MAS), polyostotic fibrous dysplasia (PFD), and monostotic fibrous dysplasia (MFD). We hypothesized that patients with MAS would show higher disease severity, have more complications, and undergo more operations than those with PFD or MFD.

PATIENTS AND METHODS

A retrospective cohort study of patients with MAS or FD, evaluated at Massachusetts General Hospital from 2000 to 2018, was implemented. Patients of all ages and genders were identified through Massachusetts General Hospital Data Registries using International Classification of Diseases, Ninth Revision (ICD-9) and International Classification of Diseases, Tenth Revision (ICD-10) codes. Those with adequate clinical and radiographic data were included. Predictor variables were diagnosis of MAS, PFD, or MFD; age; and gender. Outcome variables included severity of disease at initial presentation (aggressive, nonaggressive and slow growing, or quiescent), number of operations, and complications: pain, sensory disturbances, pathologic fracture, airway obstruction, osteomyelitis, and dental findings. Data were analyzed with descriptive statistics and assessed for significance using χ tests and analysis of variance (P < .05).

RESULTS

A total of 229 patients were identified: 114 had craniofacial FD, and 70 of these 114 (61.4%) met the inclusion criteria (48 of whom were female patients). The average age at diagnosis was 23.5 years; mean length of follow-up, 5.8 years. Diagnoses included MAS in 9 patients, PFD in 24, and MFD in 37. Signs and symptoms at initial presentation were pain (n = 29), sensory abnormalities (n = 13), facial deformity or swelling (n = 54), and dental findings (n = 25). At presentation, the biological behavior of disease was 77.8% aggressive, 11.1% nonaggressive, and 11.1% quiescent in the MAS group; 41.7%, 41.7%, and 16.7%, respectively, in the PFD group; and 29.7%, 29.7%, and 40.5%, respectively, in the MFD group. Patients with MAS were younger and were more likely to have pain, pathologic fractures, more bones involved, bilateral disease, and visual symptoms than those with PFD or MFD. MAS patients underwent more operations (mean, 4.2 ± 4.18) than those with PFD (mean, 2.6 ± 2.31; P = not significant) or MFD (mean, 1.7 ± 1.28; P = .010).

CONCLUSIONS

The results of this study indicate that patients with MAS, presumably with the same mutation, are more likely to have aggressive disease, complications, and more operations than those with PFD or MFD.