Craniofacial fibrous dysplasia: A review of current literature.

Abstract

Fibrous dysplasia (FD) is a rare genetic disease, in which normal bone is replaced by fibro-osseus tissue. Disease severity varies greatly from single monostotic lesions to widespread polyostotic disease. Craniofacial lesions are common and, due to the complex anatomy, can cause several disabling symptoms and local extra-skeletal complications. Since relatively rare, reported cases of craniofacial FD (CFD), specifically, are few and the appropriate management remains incompletely defined. We performed a systematic literature review following the PRISMA guidelines for articles considering CFD in the years 2010-2023. The search was conducted in the PubMed and OVID Medline libraries. Altogether 193 articles were retrieved and reviewed. Overall, the clinical presentation of CFD is highly variable depending on site and extent of lesion, with pain, deformity or impairment of function being most common. Diagnoses are often incidental and primarily based on CT imaging, while more extensive imaging, genetic studies and lesion biopsies are reserved for unclear cases. Asymptomatic patients are suitable for observation, while symptomatic or widespread disease may require more active approach with medical or surgical treatment. Follow-up is encouraged in all patients to observe possible lesion reactivation, late-stage complications and, though rarely, malignant transformation. Management should be individually tailored with a multidisciplinary team and wholesome consideration of individual needs. This review provides an updated discussion on craniofacial FD with focus on improved understanding of disease pathophysiology, appropriate line of surgical management, and new potential means of medical treatment.