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Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS) frequently involves the craniofacial skeleton. Craniofacial fibrous dysplasia lesions exhibit diverse imaging characteristics on multimodality evaluation, utilizing radiographs, computed tomography (CT), magnetic resonance imaging (MRI), and 18F-sodium fluoride positron emission tomography (18F-NaF PET). A multimodal imaging classification of craniofacial fibrous dysplasia lesions may offer clinical insights into the types of lesions that are (1) prone to progression, (2) amenable to intervention (i.e., pharmacological or surgical), or (3) associated with symptoms such as pain. In this prospective, preliminary single site study of 15 patients with FD/MAS, the heterogeneity of craniofacial lesions (N = 35) was assessed using a combination of 18F-NaF PET, MRI, and CT. A k-means clustering algorithm was used to categorize lesions based on imaging characteristics. Clustering analysis revealed three types of lesion based on the magnitude of the regional 18F-NaF standardized uptake values (SUV), signal intensities on T1-weighted and fluid-sensitive sequences, and appearance on CT (lucent, sclerotic, and/or ground glass). This preliminary study provides a foundation for future longitudinal natural history or treatment studies, where the prognostic value of baseline craniofacial fibrous dysplasia imaging characteristics and clinical symptomatology can be further evaluated.

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PURPOSE: To summarize the clinical manifestations of craniofacial fibrous dysplasia (CFD) patients with ocular complications, and find effective methods to diagnose early. METHODS: Nine CFD patients with ocular complications, and their parents were recruited in this study. All patients underwent ocular and systemic examinations. Bone lesions from all patients and peripheral blood from patients and their parents were collected for whole exome sequencing (WES). According to the screening for low-frequency deleterious variants, and bioinformatics variants prediction software, possible disease-causing variants were found in multiple CFD patients. The variants were validated by Sanger sequencing. Trio analysis was performed to verify the genetic patterns of CFD. RESULTS: All patients were diagnosed with CFD, according to the clinical manifestations, classic radiographic appearance, and pathological biopsy. The main symptoms of the 9 CFD patients, included visual decline (9/9), craniofacial deformity (3/9) and strabismus (2/9), with few extraocular manifestations. The family backgrounds of all the CFD patients indicated that only the patient was affected, and their immediate family members were normal. GNAS variants were identified in all bone lesions from CFD patients, including two variant types: c.601C > T:p.R201C(6/9) and c.602G > A:p.R201H (3/9) in exon 8. The detection rate reached 100% by WES, but only 77.8% by Sanger sequencing. Interestingly, we found GNAS variants could not be detected in peripheral blood samples from CFD patients or their parents, and other potentially disease-causing gene variants related to CFD were not found. CONCLUSIONS: For CFD patients with bone lesions involving the optic canal or sphenoid sinus regions, ocular symptoms should also be considered. Furthermore, we confirmed that CFD is not inherited, somatic variants in the GNAS gene are the main pathogenic gene causing CFD. Compared to the traditional methods in molecular genetic diagnosis of CFD, WES is more feasible and effective but limited in the type of samples.

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BACKGROUND: The co-existence of meningioma and craniofacial fibrous dysplasia (CFD) is rare. Due to the similar radiological characteristics, it is challenging to differentiate such co-existence from solitary hyperostotic meningioma resulting in a dilemma of prompt diagnosis and appropriate intervention. METHOD: We conducted a retrospective review of the data from 21 patients with concomitant meningioma and CFD who were treated at Beijing Tiantan Hospital from 2003 to 2021. We summarized their clinicopathological features and performed a comprehensive literature review. Additionally, we tested the characteristic pathogenic variants in exon 8 and 9 of GNAS gene and the expression of corresponding α-subunit of the stimulatory G protein (Gαs) related to CFD to explore the potential interactions between these two diseases. RESULTS: The cohort comprised 4 men and 17 women (mean age, 45.14 years). CFD most commonly involved the sphenoid bone (n = 10) and meningiomas were predominantly located at the skull base (n = 12). Surgical treatment was performed in 4 CFD lesions and 14 meningiomas. Simpson grade I-II resection was achieved in 12 out of the 14 resected meningiomas and almost all of them were classified as WHO I grade (n = 13). The mean follow-up duration was 56.89 months and recurrence was noticed in 2 cases. Genetic study was conducted in 7 tumor specimens and immunohistochemistry was accomplished in 8 samples showing that though GNAS variant was not detected, Gαs protein were positively expressed in different degrees. CONCLUSIONS: We presented an uncommon case series of co-diagnosed meningioma and CFD and provided a detailed description of its clinicopathological features, treatment strategy and prognosis. Although a definite causative relationship had not been established, possible genetic or environmental interplay between these two diseases could not be excluded. It was challenging to initiate prompt diagnosis and appropriate treatment for concomitant meningioma and CFD because of its similar radiological manifestations to meningioma with reactive hyperostosis. Personalized and multi-disciplinary management strategies should be adopted for the co-existence of meningioma and CFD.

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The authors report an extremely rare case of a massive hyperostotic meningioma en plaque, which had characteristics of unique bony growth. A 34-year-old man presented with a palpable solid mass in the left cranial region that had gradually grown in size with a broad base on the calvarium for 8 years. Radiologically, the area involved by the mass ranged from the sphenoid bone to the frontal, parietal, temporal, and occipital bones. Three-dimensional CT revealed multiple growing spiculate features on the inner and outer cranial surface. Even though the radiologic features resembled fibrous dysplasia, it was histologically found to be a type of meningioma.

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Craniofacial fibrous dysplasia (CFD) may be associated with major cosmetic or functional consequences. However, management recommendations for CFD are currently unavailable. Therefore, this systematic literature review aimed to review the existing approaches for CFD management and propose a management algorithm. The focus question was "What are the different options for CFD treatment and their complication rates?" The MEDLINE database was searched, and 33 articles evaluating a total of 1154 patients were reviewed. The bias assessment showed that 20 of the 33 studies had a high or intermediate risk of bias, mainly because of retrospective data collection and small patient numbers. Radical surgery showed a lower recurrence rate than debulking, but its use should be weighed against the morbidity caused by the reconstruction performed in this technique. Orbital decompression using a radical technique or debulking is effective in cases showing exophthalmos or dystopia. Surveillance is a viable option for asymptomatic and/or non-progressive lesions. In cases showing optic nerve compression, prophylactic decompression should be avoided, and decompression should be performed only when patients show diminished visual acuity or visual field defect. Although bisphosphonates have shown efficacy in pain management, their posology requires further discussion. A management algorithm is presented.

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Rationale: Fibrous dysplasia (FD) is a fibro-osseous lesion of the osseous structures of the body. With an incidence of 1:4000-1:10,000, it seems to be a rare disease. Polyostotic craniofacial fibrous dysplasia involves the skull base bones and facial bones. Patient Concerns: The patient complained of a huge swelling over the right side of her face for the past 12 years. Diagnosis: Based on clinical, radiological and histopathological findings, the swelling was diagnosed as polyostotic craniofacial FD. Treatment: Swelling over the right side of the midface around 6 cm × 5 cm involving right maxilla, zygoma, floor of orbit, lateral side of nose (pyriform aperture) and skull base bones. Since the patient had no functional deficit, we opted for surgical recontouring. Outcomes: The patient was satisfied with post-operative results. Take-Away Lessons: In huge asymptomatic facial deformity, rather than going for resection, we can remove bone in a piecemeal manner followed by recontouring.

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OBJECTIVE: To investigate the feasibility of endoscopic transnasal optic canal decompression (ETOCD) guided by a navigation surgical system (NSS) for vision recovery in patients with compressive optic neuropathy (CON) caused by craniofacial fibrous dysplasia (CFD), and to explore the underlying cause of visual impairment. METHODS: All patients underwent unilateral NSS-guided ETOCD and were followed up periodically for at least six months. Paired sample t-test and Pearson correlation analyses were used to compare continuous variables of the visual outcomes at the final review. A histopathological test of abnormal bone specimens was performed postoperatively. RESULTS: Thirty-four patients were finally included, and all surgeries were uneventful. The best corrected visual acuity (BCVA) (logMAR units) decreased from 1.29 ± 0.80 preoperatively to 0.97 ± 0.78 at the last follow-up (p = 0.0012), improving in 28 patients (82.35%). The absolute value of mean defect (MD) significantly decreased (p < 0.001). Color vision was impaired in 17 patients preoperatively and improved in 6 patients. BCVA at the last follow-up was significantly correlated with preoperative BCVA, onset time, preoperative retinal nerve fibril layer thickness, and MD (all p < 0.05). Among 34 patients, 26 had a blunt bony process near the anterior foot of the optic chiasm. Of the total patients, 73.53% patients experienced bony fiber recurrence 6 months or earlier after surgery without visual loss. CONCLUSION: NSS-guided ETOCD appeared to be safe and effective for visual recovery in patients with CON due to CFD, and early surgical intervention was critical for long-term recovery. Unbalanced compression of the optic canal by the blunt bony process may be a major cause of visual impairment. LEVEL OF EVIDENCE: 4 Laryngoscope, 133:1857-1866, 2023.

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Benign fibro-osseous lesions are a diverse range of entities that have distinct clinical and radiographic features. They can occur as solitary lesions or concomitant with other pathologies as hybrid lesions. Fibrous dysplasia (FD) accompanied by central giant cell granuloma (CGCG), peripheral giant cell granuloma (PGCG) or peripheral ossifying fibroma (POF) as hybrid lesions, is reported very rarely in the literature. Although we were unable to find any reports of FD with PGCG as a hybrid lesion. Fibro-osseous lesions have certain histopathological features in common with PGCG including multinucleated giant cells. Here we report a 28 year old female with a painless, slow growing and pedunculated swelling of the maxilla for 18 months. Differential diagnosis consisted of FD, cemento-ossifying fibroma (COF), chondrosarcoma and probable PGCG considering radiographic and clinical investigations. Histopathologic findings revealed PGCG and FD as a hybrid lesion. The combination of PGCG and FD has not been reported in the literature so far.

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Maxillofacial tumours cover a broad spectrum of lesions, including neoplasms, hamartomatous changes and developmental disorders. Since the beginning of 2022, a beta version of the 5th edition of the WHO classification for head and neck tumours has been available online, and a print version is expected to be published in mid-2023. From a conceptual point of view, little has been changed compared to the 4th edition; the sort order of lesions is more rigorously arranged according to benign and malignant behaviour and identical tumour types are no longer described redundantly in different chapters depending on their location. The diagnostic criteria are now summarized as "essential" and "desirable", and in addition to the clinical features, imaging is now also incorporated, providing an interdisciplinary approach to the classification. A few new entities are included for the first time. This article gives an overview of the main changes introduced in the new WHO classification with a special emphasis on fibro-osseous lesions of the craniofacial skeleton.

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The aim of this study was to introduce a new computer guided technique for debulking and contouring the craniofacial fibrous dysplasia involving the fronto-orbital and fronto-cranial regions. Computer-guided contouring was performed using a modified patient-specific surgical depth guide for six patients with craniofacial fibrous dysplasia involving the fronto-orbital and fronto-cranial regions. Virtual planning was performed to determine the desired amount of bone removal and construct the patient-specific surgical depth guide. Then, the guide was printed using rapid prototyping. In the surgical theatre, the guide was seated in position. Implant drills were inserted through the created depth holes according to the planned fixed depth to create depth holes. Finally, the bone in between the created holes was removed using cutting discs, bone chisels and surgical burs. Satisfaction with facial aesthetics was evaluated by the patients using a Likert scale, and by the surgeons using the Whitaker rating scale. The surgical procedures were uneventful for all the patients. All the patients were satisfied with the post-operative facial esthetics and categorized as category I Whitaker rating scale. Patient-specific surgical guide technique for recontouring of fronto-orbital and fronto-cranial fibrous dysplasia can be considered an accurate substitution technique that overcomes the drawbacks of the unpredictable conventional one. Further investigations are required.

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Background Craniofacial fibrous dysplasia (CFD) is an uncommon benign condition in which a bone is replaced by fibrous tissue. An adequate clinical characterization considering the number of affected bones and functional impairment is important to determine the most effective surgical intervention for its management. This study aims to present our institution's experience in the evaluation and management of CFD. Methods This was a retrospective study that included patients with CFD managed at our institution. Data included demographic characteristics, afflicted bones, surgical procedures performed, and recurrence. Results are presented as mean and percentages. Recurrence-free years and association between the type of surgery and recurrence was evaluated. Results Eighteen patients were included (11 females, 61%). The zygomatic, maxillary, and frontal bones were the most commonly affected with eight (18%) cases each. The most common procedure was bone burring, with 36 procedures. Recurrence was more prevalent after burring (58.3%) and occurred earlier than in the bone resection group (13 vs. 15 years, p > 0.05). Conclusion Surgery continues to be the cornerstone of CFD treatment. Bone burring is effective for debulking and contouring but increases the risk for recurrence. An individualized approach should be tailored according to the anatomical location of the disease, type of CFD, behavior of the lesion, and accompanying clinical complaints.

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BACKGROUND: Fibrous dysplasia (FD) is a localized bone disorder in which fibro-osseous tissue replaces the normal bone structure. Patients with craniofacial FD often present with gradual swelling, deformity, and compromised vision or hearing. We previously introduced "the core extirpation method," a novel surgical technique that is minimally invasive like traditional bone shaving but has longer-lasting effects. This study presents the long-term outcomes of our core extirpation method. METHODS: We conducted a retrospective analysis of patients who underwent core extirpation for FD of the zygomaticomaxillary region from 2012 through 2021. Computed tomography (CT) scans were performed 6 to 12 months before the operation, immediately before and after the operation, and during follow-up visits. We performed all operations using the upper gingivobuccal approach, and we extirpated the core of the lesion while preserving the cortical structures of the zygoma and the maxilla to maintain symmetrical facial contour. RESULTS: In 12 patients with lesions in the growth phase, anteroposterior/mediolateral (AP/ML) length discrepancies and the volume increased between preoperative and immediate postoperative CT scans. All patients' immediate postoperative AP/ML discrepancies were stable up to 12-17 months postoperatively. Postoperative volume showed continuous lesion growth; the median volume growth rate was 0.61 cc per month. CONCLUSION: In this article, we present our experiences managing FD using the minimally invasive core extirpation technique, which entails small expected blood loss and can be performed as day surgery. It provides similar cosmetic outcomes as traditional bone shaving but with longer-lasting results. Although there are some limitations with the study's retrospective nature and small sample size, our 4-year follow-up results show promising results of the core extirpation method in well-indicated patients.

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PURPOSE OF REVIEW: This study aims to review diagnosis, potential complications, and clinical management in craniofacial fibrous dysplasia. RECENT FINDINGS: Fibrous dysplasia (FD) is a rare mosaic disorder in which normal bone and marrow are replaced with expansile fibro-osseous lesions. Disease presents along a broad spectrum and may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). The craniofacial skeleton is one of the most commonly impacted areas in FD, and its functional and anatomical complexities create unique challenges for diagnosis and management. This review summarizes current approaches to diagnosis and management in FD/MAS, with emphasis on the clinical and therapeutic implications for the craniofacial skeleton.

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Fibrous dysplasia is a developmental abnormality characterized by the replacement of normal bone tissue by fibrous connective tissue with poorly organized bone trabeculae. This disorder rarely occurs in the craniofacial region, but in such cases it causes facial asymmetries and has severe clinical implications for the patient. This case report describes the treatment of an 18-year-old man who presented with complaints of facial deformity and decreased visual acuity. Cone beam computed tomography revealed a diffuse bone lesion affecting the region of the maxillary, frontal, and nasal bones on the left side of the face. After microscopic examination, the diagnosis of craniofacial fibrous dysplasia was made. The patient underwent a bilateral temporal craniotomy to perform decompression of the orbital apices and correct the loss of visual acuity. In addition, surgical cosmetic contouring of the facial bones was performed. The patient has been followed up by a multidisciplinary team; at his most recent examination, 18 months after the last surgical intervention, his clinical condition remained stable.

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BACKGROUND: There are relatively few reports on the histopathological characteristics of diffuse sclerosing osteomyelitis of the mandible (DSOM), which is difficult to distinguish from chronic suppurative osteomyelitis (CSO) and craniofacial fibrous dysplasia (CFD). This study aimed to summarize and compare the histopathological characteristics of DSOM, CFD, and CSO. MATERIALS AND METHODS: In this study, hematoxylin and eosin-stained sections of patients with DSOM, CSO, and CFD at the Peking University Hospital of Stomatology from 2015 to 2020 were retrieved. The histopathological characteristics were summarized, including new bone formation, inflammatory cell infiltration, bone trabecular morphology, osteoclasts, sequestrum, bacterial mass, and calcified spherules, similar to cementicles. The histopathological characteristics of DSOM, CSO, and CFD were compared, and the results were statistically analyzed. RESULTS: In total, 50, 13, and 10 patients with DSOM, CSO, and CFD were included in this study, respectively. In terms of new bone formation, both DSOM and CSO showed reactive bone formation (p = 1), whereas CFD mainly showed fiber osteogenesis (p < 0.001). The inflammatory cells of DSOM were mainly lymphocytes and plasma cells, whereas those of CSO were mainly lymphocytes and neutrophils (p < 0.001), and there was usually no inflammatory cell infiltration in the CFD specimens (p < 0.001). DSOM, CSO, and CFD showed irregular bone trabeculae (p = 0.045, p = 0.703) and active osteoclasts (p1 = 0.189, p2 = 0.256). DSOM showed a small amount of bacterial mass but no sequestrum; neither of which was found in CFD (p = 1, p = 1), but it was common in CSO (p = 0.011 and p = 0.025). DSOM and CSO showed smooth and regular basophilic lines (p = 0.308), whereas CFD showed a rough and irregular basophilic line (p < 0.001). CONCLUSIONS: The histopathological characteristics of the three diseases were partly similar, but there were evident differences. The main differences are the type of new bone formation, types and distribution of inflammatory cells, and presence of sequestrum and bacterial masses. These differences will help clinicians diagnose DSOM.

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Sphenoidal Dysplasia is the absence of complete or a part of sphenoid bone, most commonly the greater wing of sphenoid. It can occur as an isolated deformity or in Neurofibromatosis-1 (NF1). Features of NF1 include café au lait spots, inguinal or axillary freckling, neurofibromas, optic gliomas, scoliosis and tibial deformity. Our study is retrospective case series of 3 cases of Sphenoid wing dysplasia. There was 1 case of isolated bone defect, 1 case of NF-1 and 1 case of operated Craniofacial Fibrous Dysplasia involving the sphenoid wing. There were 2 primary operated cases while 1 was operated secondarily. There was resolution of pulsatile exophthalmos in patient with sphenoid and temporal bone defect. Patient with facial deformity NF1 was debulked to the satisfaction of the patient, the patient however declined surgery to correct the sphenoid bone deformity. The 3rd patient was a re-do surgery patient in which the previous implant material was removed and the CSF rhinorrhoea, the patient did not consent to the correction of vertical orbital dystopia. Sphenoid wing dysplasia is a complex deformity requiring multi speciality care and treatment planning. With meticulous planning and surgery, good results can be achieved as shown in our case series.

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Fibrous dysplasia (FD) is a rare benign disease that replaces a normal bone with abnormal fibrous and weak osseous tissue. It is usually detected in childhood and rarely occurs in old age. Although the disease is known to be caused by a genetic mutation, only a single case of FD secondary to surgery is reported in the literature. We report a case of monostotic FD of the maxillary sinus in a 70-year-old Asian woman who presented with incidental calcific lesion in the maxillary sinus on a brain computed tomography scan. At 32 months prior to presentation, the patient had undergone an endoscopic sinus surgery for a fungal ball of the same sinus. The lesion was removed by endoscopic surgery, and the histopathological evidence was consistent with FD. To the best of our knowledge, this is the second case of a postsurgical craniofacial FD, and a rare case that occurred in old age.

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Fibrous dysplasia (FD) is a developmental pathology of the bones in which normal bone is replaced by fibrous tissue and immature bone. It can affect single bone (monostotic) or multiple bones (polyostotic), sporadically or in association with McCune-Albright syndrome, Jaffe-Lichtenstein syndrome, or Mazabraud syndrome. When multiple bones in the craniofacial region are affected, the term "craniofacial FD" is used. Nonspecific cystic degeneration occurring in FD of the jaws has rarely been reported in the literature. Here, we present a 52-year-old male patient who reported with a longstanding gradual expansion of the mandible unilaterally. Investigations revealed the presence of mixed radiolucent radioopaque appearance in the mandible and dense sclerotic multiple craniofacial bones. In addition, a lytic lesion in the mandible was appreciated. Histopathological examination of the mandible confirmed the diagnosis of FD with nonspecific cystic degeneration.

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Fibrous dysplasia (FD) is a progressive and benign osteodystrophic disease where cranial bones are most commonly affected. In this case report, we present a 27-year-old patient with previous diagnosis of FD who was referred to our clinic with sudden loss of visual acuity and color discrimination. Examination of the right eye was normal, whereas visual acuity on the left eye was 6/9 and color vision (CV) with Ishihara test plates was 9/12. The visual field (VF) demonstrated a peripheral concentric defect on the left eye. As visual acuity in the left eye decreased to 6/30 and computed tomography imaging of the brain and orbit showed optic nerve compression by immature bony structures, optic nerve decompression was recommended with the diagnosis of compressive optic neuropathy. Endoscopic transnasal orbital and optic canal decompression was performed. At the postoperative course, visual acuity on the left eye turned to 6/6, CV was 12/12, and VF improved markedly. In subjects with craniofacial FD, a multidisciplinary approach is important. If there is evidence of compressive optic neuropathy, surgery should be performed.

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Fibrous dysplasia has various ways of presentation including syndromic associations and secondary changes within the lesion. We present a case of a 21-year-old female with craniofacial fibrous dysplasia, presenting with proptosis and intermittent blurring of vision due to focal fibrous dysplasia involving the frontal bone with secondary aneurysmal bone formation that was provisionally diagnosed on imaging and confirmed on histopathology. This case demonstrates the typical imaging findings of fibrous dysplasia with seldom encountered secondary aneurysmal bone cyst formation and also discusses about the pathology and management of the craniofacial fibrous dysplasia.