Craniofacial fibrous dysplasia: a challenge for general dental practitioners

OPEN | VERIFIABLE CPD PAPER Restorative Dentistry CLINICAL Craniofacial fibrous dysplasia: a challenge for general dental practitioners Manuel W. H. Man,*1 Roshni Ruparelia,2 Jasleen K. Batra,3 Krupti Denhard4 and Ulpee R. Darbar4 Key points Early recognition of the oral and dental features of fibrous dysplasia is important to initiate early management. General dental practitioners play an essential role in the early recognition of these features. Patients with craniofacial fibrous dysplasia have complex integrated treatment needs which need early recognition, intervention and referral if necessary. Abstract Craniofacial fibrous dysplasia (CFD) is an asymptomatic disease that can have oral manifestations with severe effects on a patient’s wellbeing. It is usually diagnosed based on patient concerns, including poor appearance due to spacing and functional difficulties in eating and speaking, as well as the presenting features, such as facial asymmetry and corresponding malocclusion, delayed or abnormal tooth eruption, and painless swelling or bony expansion. General dental practitioners (GDPs) will often see patients presenting with these multiple symptoms which can be overwhelming. An awareness of the oral and dental features is thus important to make an early diagnosis and to ensure that the patient is given the best advice and guidance early on what is available to address their concerns. This paper provides an overview of the oral and dental features associated with CFD and presents two cases in whom delayed diagnosis resulted in complex treatment needs to address their concerns. Both cases highlight the importance of early diagnosis and the essential role of GDPs in early recognition of the condition to optimise patient care and wellbeing. Introduction Fibrous dysplasia (FD) is a rare, developmental, benign fibro-osseous disease in which normal bone is replaced with fibrous tissue and structurally weak bone due to a change in normal bone metabolism by somatic gene mutation during embryogenesis.1 The clinical symptoms of the disease depend on when the mutation occurs and the level of differentiation of the primary pluripotent cells.2 Its incidence is estimated to be 1-in-5,000–10,0003 and constitutes 5–7% of all benign bone lesions.4,5 Specialty Doctor in Restorative Dentistry, Royal National ENT & Eastman Dental Hospital, 47–49 Huntley Street, London, WC1E 6DG, UK; 2Dental Core Trainee 2 in Restorative Dentistry, Royal National ENT & Eastman Dental Hospital, 47–49 Huntley Street, London, WC1E 6DG, UK; 3Dental Core Trainee 1 in Restorative Dentistry, Royal National ENT & Eastman Dental Hospital, 47–49 Huntley Street, London, WC1E 6DG, UK; 4Consultant in Restorative Dentistry, Royal National ENT & Eastman Dental Hospital, 47–49 Huntley Street, London, WC1E 6DG, UK. *Correspondence to: Manuel W. H. Man Email address: 1 Refereed Paper. Submitted 13 June 2024 Revised 26 June 2025 Accepted 1 July 2025 https://doi.org/10.1038/s41415-025-9010-y A 2:1 female-to-male ratio has been suggested with manifestation usually in the first few years of life.6 FD can be monostotic involving one bone, polyostotic involving multiple bones, or syndromic being associated with JaffeLichtenstein disease, or Mazabraud and McCune-Albright syndromes.7 Those with the McCune-Albright syndrome also present with skin pigmentation, with light brown irregularly shaped patches with jagged edges known as ‘café-au-lait spots’. Other features related to endocrine abnormalities include hyperthyroidism, excess cortisol production (Cushing’s syndrome), enlarged facial features, hands and feet (acromegaly)8 and proptosis (bulging eyes). Hearing loss or optic nerve damage caused by cranial nerve compression may also be seen.9 Monostotic FD accounts for 70% of all cases and involves the jaw bones, especially the posterior maxilla, in which painless expansion of the bone occurs, with the term craniofacial fibrous dysplasia (CFD) used to describe cranial bone involvement.5 Its prevalence in the craniofacial region ranges from 10–25% in monostotic disease, and up to 90% in polyostotic disease.10,11 The clinical features of FD are influenced by the BRITISH DENTAL JOURNAL | VOLUME 239 NO. 10 | November 28 2025 © The Author(s) 2025. type and can be isolated to small areas or may involve extensive spread to wider areas. CFD lesions are some of the earliest that can be detected, and the maxilla is affected almost twice as often as the mandible, with the lesions usually expanding during childhood/ adolescence and becoming less active in adulthood. Expansion of the alveolar ridge cortices may extend to the hard palate.12,13 Other facial and dental features include facial asymmetry and deformity caused by the bone expansion within the jaw; malocclusion; tooth displacement; dental crowding and spacing; enamel hypoplasia; odontomas and retained primary teeth; diminution of the maxillary sinus; dentine dysplasia; and taurodont pulp chambers.14 Patients with CFD may also have a high caries incidence and when present with jaw deformities and café-au-lait lesions, a diagnosis of CFD should be suspected. Diagnosis of CFD is based on the patient’s history and clinical presentation; however, radiographic findings can be variable depending on the extent and severity of the disease. The classical radiographic appearance of the bone is described as ‘ground-glass’ or ‘mixed mottled’ with interspersed radiolucency and radiopacity and ill-defined lamina dura.15 693 CLINICAL Restorative Dentistry Table 1 Differential diagnosis of craniofacial fibrous dysplasia (CFD) Differential diagnosis Clinical presentation Radiographic appearance Similarity with CFD Difference with CFD Simple bone cyst41 Usually asymptomatic and found incidentally Can cause pain or swelling if it expands Well-defined, radiolucent, solitary lesion with smooth borders and no cortical destruction Painless swellings Often discovered incidentally Radiolucent with no internal radiopacities Ossifying fibroma Well-defined and slow-growing benign tumour Expansile lesion with a clearer cortical boundary Painless bony expansion Mixed radiolucent-radiopaque appearance with cortical thinning and expansion Well-demarcated and encapsulated Osseous dysplasia43 Non-expansile growth pattern Usually asymptomatic Radiolucent in early stage which tends to become mixed and eventually radiopaque as it matures Asymptomatic Often discovered incidentally Ground-glass radiographic appearance Non-expansile Usually no facial asymmetry Giant cell tumour44 Painful, rapidly-enlarging mass May cause pathological fracture Purely radiolucency Well-defined lesion Cortical thinning and possible expansion Facial swelling Radiographically expansile with cortical thinning Painful, rapidly expanding Radiographically purely radiolucent and multilocular Aneurysmal bone cyst45 Painful and rapidly growing swelling May cause pathological fracture and tenderness Mul (...truncated)