Contemporary Surgical Management of Craniofacial Fibrous Dysplasia Using Computer-Assisted Surgery and Intraoperative Navigation.

Craniofacial fibrous dysplasia (CFD) is a rare developmental disease of bone, which typically presents as a painless, expansile mass causing deformity of the craniofacial skeleton. In rare circumstances, compression of neurovascular structures may arise, causing symptoms such as pain, visual impairment, and hearing loss. Traditionally, CFD debulking has been performed with "freehand" techniques using preoperative imaging and anthropometric norms to determine the ideal amount of tissue removal. The advent of computer-assisted surgery, computer-aided design, and computer-aided manufacturing (CAD/CAM) has revolutionized the management of CFD. Surgeons can now fabricate patient-specific osteotomy/ostectomy guides, allowing for increased accuracy in bone removal and improved cosmetic outcomes. This series of 3 cases describe our institution's technique using patient-specific ostectomy "depth guides", which allow for maximum removal of fibro-osseous tissue while sparing deep and adjacent critical structures. These techniques can be widely applied to the craniofacial skeleton to assist in the surgical management of CFD.

Functional outcomes and recurrence determinants in craniofacial fibrous dysplasia: Insights from 3D computed tomography and comprehensive clinical evaluation.

BACKGROUND: This study aimed to identify risk factors for postoperative lesion regrowth and to assess functional outcomes in craniofacial fibrous dysplasia, using a three-dimensional computed tomographic volumetric analysis. METHODS: A retrospective analysis was conducted on 47 patients with craniofacial fibrous dysplasia who were treated from July 2005 to December 2020. Patients were treated with either conservative shaving or radical excision followed by reconstruction. Demographic data, surgical details, lesion recurrence, and functional outcomes were assessed. Lesion volume changes and recurrence were evaluated clinically and through a computed tomographic volumetric analysis. RESULTS: Among the patients, 16 underwent conservative treatment, whereas 31 received radical treatment. The radical group showed more significant improvements in functional outcomes, particularly in orbital dystopia and facial asymmetry. Postoperative lesion volume was notably lower in the radical group (41.94 ± 38.13 cm3) compared with the conservative group (78.3 ± 47.3 cm3, p = 0.008). This reduction was maintained over an average follow-up of 3 years. Lesion growth rates were similar between the groups (8.17 ± 5.85% in radical vs. 5.84 ± 6.43% in conservative, p = 0.268). Multivariate analysis indicated that patients aged ≤20 years and those with multifocal involvement had significantly higher risks of recurrence, with adjusted odds ratios of 11.269 (p = 0.039) and 6.914 (p = 0.046), respectively. CONCLUSIONS: Our findings suggest that both conservative and radical treatments for craniofacial fibrous dysplasia provide benefits, with the radical approach notably enhancing functional outcomes. However, neither method definitively reduces lesion recurrence, highlighting the necessity for an individualized treatment strategy. This approach should balance functional enhancement with recurrence risks, tailored to each patient's specific clinical scenario.

Modification of LeFort I Osteotomy for Correction of Severe Maxillary Cant Associated With Fibrous Dysplasia.

Differential superior reposition of maxilla following LeFort I osteotomy in the correction of maxillary cant poses a greater challenge especially when associated with the pathology like fibrous dysplasia which completely obliterates the antrum. Purpose of this paper is to highlight the modification of LeFort I osteotomy and hypothesis is to assess its difficulty index in modifying the standard steps, in executing the maxillary separation at various to correct the gross facial asymmetry to achieve a favorable outcome. Multiphased management involved scrupulous clinical planning, advanced imaging by computed tomgraphy scans, stereolithographic models to debulk the lesion. The second phase included pre surgical orthodontic evaluation along with correction of severe maxillary cant adopting a modified LeFort 1 osteotomy technique and standard bilateral sagittal split osteotomy, thereby simultaneously attaining functional stability and esthetic harmony.

Radiological Imaging Findings of Craniofacial Fibrous Dysplasia.

AIM: To present the radiological findings of fibrous dysplasia (FD) patients who had computed tomography (CT) and/or magnetic resonance imaging (MRI) scans. MATERIAL AND METHODS: This study included a total of 25 patients (17 female and 8 male) who were found to have FD based on CT examinations between March 2010 and July 2018. Involved bones, type of involvement (single or multiple) and CT appearance features (ground-glass, sclerotic, cystic or mixed type) were evaluated. RESULTS: Age range of the patients with FD was 14-55 (mean: 29.92 ± 12.63) years. Sixteen patients had single bone and nine patients had multiple bones affected. Single bone most frequently involved maxillary bones. Multiple bone involvement affected up to four bones, sphenoid bone being the most frequent. Fifteen lesions were mixed type, eight were ground-glass and two were sclerotic on CT. Intense contrast-enhancement was observed in four patients on MRI. CONCLUSION: Craniofacial FD is more frequent in young adults and women, and more commonly involves single bone, mostly maxillary and sphenoid bones. Craniofacial FDs could be of different types on radiological examinations depending upon their compositions.

Multi-analytic study of a probable case of fibrous dysplasia (FD) from certosa monumental cemetery (Bologna, Italy).

OBJECTIVE: To evaluate, via a multidisciplinary approach, a distinctive paleopathological condition believed to be fibrous dysplasia, found on a 19th/20th century skeleton from Certosa Monumental Cemetery, Bologna, Italy. MATERIALS: A skeletonized cranium and mandible recovered from an ossuary in 2014. METHODS: Pathological alterations were analysed by radiological examination, dental macrowear, histopathological and genetic analyses. RESULT: The skeleton is believed to be an adult male. Differential diagnoses include Paget's disease, McCune-Albright syndrome, osteochondroma and osteosarcoma. The radiographic findings, along with the solitary nature of the lesions, are strong evidence for the diagnosis of fibrous dysplasia (FD). Genetic analysis further revealed a frequency of ˜1% of mutant alleles with the R201C substitution, one of the post-zygotic activating mutation frequently associated with FD. CONCLUSIONS: The multi-analytical method employed suggests a diagnosis of monostotic form of FD. The diagnostic design incorporates multiple lines of evidence, including macroscopic, histopathological, and genetic analyses. SIGNIFICANCE: Through the use of a multi-analytic approach, robust diagnoses can be offered. This case serves as one of the oldest examples of FD from an historical context. The genetic mutation detected, associated with FD, has not been previously reported in historical/ancient samples.

Navigation-assisted endonasal endoscopic optic nerve decompression in fibrous dysplasia.

A 12-year-old girl presented with left-sided decreased vision of 2-month duration. Clinical evaluation and imaging revealed fibrous dysplasia compressing the left optic nerve with no underlying endocrinological abnormalities. Best-corrected visual acuity showed progressive deterioration of vision over 2-month follow-up. She underwent navigation-assisted endonasal endoscopic optic nerve decompression. Post-surgery there was improvement in vision and it became normal (6/6). Six-month follow-up showed stable vision with no further complications.

Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical, radiological, and histopathological features.

Fibrous dysplasia is a non-neoplastic developmental process that affects the craniofacial bones, characterized by painless enlargement as a result of bone substitution by abnormal fibrous tissue. Postzygotic somatic activating mutations in the GNAS1 gene cause fibrous dysplasia and have been extensively investigated, as well as being helpful in the differential diagnosis of the disease. Fibrous dysplasia may involve one (monostotic) or multiple bones (polyostotic), sporadically or in association with McCune-Albright syndrome, Jeffe-Lichenstein syndrome, or Mazabreud syndrome. This review summarizes the current knowledge on fibrous dysplasia, emphasizing the value of integrating the understanding of its molecular pathogenesis with the clinical, radiological, and histopathological features. In addition, we address important aspects related to the differential diagnosis and patient management.

Cystic Degeneration of Craniofacial Fibrous Dysplasia.

BACKGROUND: Fibrous dysplasia (FD) is most often a slowly progressive benign disease in which the normal bone structure is replaced by fibrous and osteoid tissue. CASE DESCRIPTION: A 16-year-old adolescent, known with FD in the sphenoid bone, suffered an acute decreased visual acuity with papilledema on the left eye. The radiologic images were best compatible with cystic degeneration of the known FD with optic nerve compression in the optic canal. Decompression of the optic nerve was performed through an endoscopic exploration of the left sphenoid sinus. The visual acuity recovered completely. CONCLUSIONS: In FD with cystic changes, leading to acute signs of optic nerve compression, early aggressive surgical decompression is strongly recommended. Cystic degeneration of the FD, although rare, should be considered.