Craniofacial Fibrous Dysplasia Research Articles

Open and Endoscopic Endonasal Optic Nerve Decompression for Craniofacial Fibrous Dysplasia in an Adolescent: 2-Dimensional Operative Video.

Craniofacial fibrous dysplasia (CFFD) is a benign, bony disease that may affect the skull base.1,2 Most cases are asymptomatic and observed; however, advanced disease can present with cranial neuropathy or craniofacial deformity requiring intervention.3-5 A 16-year-old adolescent girl with known CFFD involving the sphenoid and frontal bones with severe bilateral optic canal narrowing developed progressive right eye visual decline and frontal cosmetic deformity. Visual acuity worsened oculus dextrus (OD) to 20/30 with a new superior nasal scotoma and 20% loss in the retinal nerve fiber layer and remained oculus sinister (OS) 20/20. The patient was recommended a staged subfrontal craniotomy for right optic decompression and simultaneous correction cosmetic deformity followed by endonasal right optic decompression. On postoperative day one, visual acuity OD improved to 20/20; however, she developed OS visual decline to 20/800. Curiously, there were no episodes of intraoperative hypotension or additional iatrogenic compression. Use of methylprednisolone led to improvement OS 20/400. Given persistent visual decline, urgent second stage endonasal bilateral optic nerve decompression, rather than unilateral, was performed. Postoperatively, vision improved to OS 20/200. At one month, her vision improved to OD 20/15 and OS returned to 20/20 with a paracentral scotoma and 29% decline in left retinal nerve fiber layer with further improvement anticipated. This video describes a multidisciplinary, multistaged approach in treatment of optic nerve compression due to CFFD in addition to the management of unanticipated contralateral visual decline. The patient consented to the procedure and publication of her image. No Institutional Review Board/ethics committee approval was necessary for this case report.

Whole Exome Sequencing as an Effective Molecular Diagnosis Tool for Craniofacial Fibrous Dysplasia with Ocular Complications

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.

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

BackgroundThis 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. MethodsA 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. ResultsAmong 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. ConclusionsOur 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.

Coexistence of meningioma and craniofacial fibrous dysplasia: a case series of clinicopathological study and literature review

BackgroundThe 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.MethodWe 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.ResultsThe 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.ConclusionsWe 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.

Craniofacial Surgery in a Low-Resource Setting: The Successes, Challenges, and Prospects

Background:Craniofacial Trauma and Anomalies affect a substantial proportion of the global society, especially those in the low-and middle-income countries (LMICs). The literature stresses the concept of a team approach for craniofacial surgery and the need for the interaction of many specialists to provide optimal care for the patient. Craniofacial surgery is practiced mainly in the advanced countries of Europe and America. This report describes the establishment of craniofacial care in an African country. It reports on 6-year early outcomes of craniofacial surgery in a low-resourced country, counting the successes, challenges, and prospects. Methods: The establishment of an international collaboration that facilitated the training in craniofacial surgery is described. A 6-year retrospective review of craniofacial surgery cases managed by the Multidisciplinary Cleft and Craniofacial team at the Komfo Anokye Teaching Hospital (KATH) was done from January 2016 to December 2022. Results: Two Ghanaian surgeons were trained in Alabama, USA (a maxillofacial surgeon and a neurosurgeon), then returned to Kumasi to begin a Craniofacial practice with the help of the craniofacial team in Children of Alabama Birmingham Al, USA. A total of 646 procedures were performed (616 cases of orofacial cleft, 20 cases of craniofacial anomalies, and 10 cases of craniofacial trauma involving the cranial vault or base of the skull). Ninety percent of the cases were cleft lip and palate, with the remainder being a mixture of isolated and syndromic craniosynostosis, craniofacial trauma, encephalocele, and craniofacial fibrous dysplasia. Conclusion: The Commonest craniofacial procedure performed was cleft lip and palate repair. Other surgeries were for the repair of velopharyngeal incompetence (VPI) and atypical facial clefts. Complex craniosynostosis and encephaloceles are also now being repaired at KATH. The foundation for a sub-regional center of excellence in cleft and craniofacial surgery is being laid in Ghana at KATH.

Craniofacial Fibrous Dysplasia in Fronto-Orbital Region: A Single-Center Retrospective Study of 38 Cases

This study presents the clinical characteristics, imaging manifestations, and surgical experience in 38 patients diagnosed with craniofacial fibrous dysplasia (CFD) in fronto-orbital region (foFD). We retrospectively analyzed the clinical data from 38 patients who had surgery for foFD. The surgical procedure typically involved extensive tumor removal, followed by immediate reconstruction of the frontal bone and orbit using synthetic materials. Additionally, 9 patients underwent simultaneous microscopic decompression of the optic canal. Common clinical manifestations included progressive fronto-orbital bone deformity (35), proptosis (28), orbital dystopia (21), and visual impairment (9). The disease primarily affecting the frontal bone (38), the sphenoid bone (28) and the ethmoid bone (24). The optic canal was involved in 9 patients with functional impairment. CT scans in all 38 cases revealed satisfactory repair material positioning and complete resolution of frontal deformities. Among the 9 patients who underwent optic canal decompression, 7 experienced partial recovery of visual acuity after surgery. In the surgical treatment of foFD, it is crucial to achieve maximal bone resection and repair skull defects, while decompressing the optic canal can provide significant benefits for patients with decreased visual function preoperatively. The use of preformed artificial materials offers advantages in aesthetic restoration after lesion excision.

Surgical Treatment of Craniofacial Fibrous Dysplasia With TP53 Gene Mutation.

To report the surgical treatment of craniofacial fibrous dysplasia (CFD) with TP53 gene mutation. The patient was diagnosed with CFD by surgery at the age of 14 years. At the age of 35 years, the tumor recurred, and the patient took active treatment. The tumor was resected 4 times by neuroendoscopy due to recurrence in a short period. Meanwhile, genetic tests were performed on the patient. The patient's postoperative pathology indicated leiomyosarcoma and genetic testing indicated TP53 gene mutation. Despite the active surgical treatment, the patient finally died of a malignant tumor. The prognosis of patients with CFD malignancy accompanied by TP53 gene mutation is poor, and its treatment is difficult. The prognostic benefit of surgical treatment for patients with CFD malignancy is limited. It is hoped that more genetic mutations will be identified and reported in patients with CFD malignancy, and long-term follow-up is necessary for patients with current fibrous dysplasia or CFD.

Craniofacial fibrous dysplasia: Systematic review of facial management

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.

Alveolar Bone Box Ostectomy Grafted with Particulate Bone Substitute with Subsequent Dental Implant Placement in a Case of Craniofacial Fibrous Dysplasia Involving the Posterior Maxilla: Case Report and Literature Review.

Patients with dysplastic bone diseases, including fibrous dysplasia (FD), represent a particular challenge for placement of dental implants. This is due to structural bony changes that may compromise the bone blood supply and plasticity, thus potentially affecting the process of osseointegration. This case report describes a novel approach for dental-implant-based rehabilitation of the posterior maxilla affected by craniofacial fibrous dysplasia (CFD), with 7 years of treatment follow-up. A 35-year-old female patient was referred due to a suspected unidentified bone lesion affecting the left side of the maxilla. A clinical and radiographic diagnosis of fibrous dysplasia was confirmed through a wedge bone biopsy. Particulate bone substitute was packed into a box-shaped ostectomy area of the lesion in the affected maxillary alveolar ridge. This was followed by the placement of four implants 6 months post operation. The implants were successfully integrated, as confirmed by clinical examination over 7 years of follow up. this treatment approach may be considered as a predictable and efficient treatment modality for dental implant rehabilitation in patients with a variety of fibro-osseous lesions, including fibrous dysplasia, which affect the alveolar bone.

THU453 Chronic Headaches As A Presentation For Monostotic Craniofacial Fibrous Dysplasia: A Case Study

Abstract Disclosure: B. Dyer: None. R.K. Bhattacharya: None. Background: Monostotic craniofacial fibrous dysplasia (CFFD) is often asymptomatic and is found incidentally on imaging. Previous reports described cases in which CFFD diagnosis was preceded by chronic headaches, but there remains a lack of clinical association between these diagnoses. Clinical Case: Patient is a 22-year-old female with a long history of chronic headaches who presented to the emergency department two days after a motor vehicle accident with complaints of headache, blurred vision, nausea, and dizziness. CT revealed an incidental sclerotic mass in the left frontal region measuring 7.9x7.3x3.7cm extending inferiorly into the left ethmoid sinus. At her primary care follow-up, she reported a pounding, left-sided headache in addition to balance issues, dizziness, nausea, and blurry vision. Workup was significant for vitamin D level of 11.2ng/mL (n = 30-100ng/mL), alkaline phosphate of 106U/L (n = 35-104U/L), and calcium of 9.1mg/dL (n = 8.6-10.3mg/dL). MRI was significant for a heterogeneous, hypointense expansile calvarial lesion within the left frontal and left sphenoid bones. The patient was diagnosed with CFFD based on radiologic findings. The patient was advised against surgical intervention due to her disease’s large, invasive nature. The patient was seen by neurology for recurrent headaches and was subsequently started on topiramate with partial symptom relief. Endocrinologist management included confirmation of monostotic CFFD by bone scan. Biopsy was deferred due to the low likelihood of malignant transformation, and bisphosphonate treatment was initiated. She was subsequently started on 5000 IU per day of vitamin D to normalize the vitamin D level before the initiation of bisphosphonate treatment for her pain. She received 5mg intravenous infusion of zoledronic treatment. At follow-up, the patient states she had significant improvement in all symptoms. Conclusion: Pain from FD can be debilitating and often increases in severity as the patient ages, though pain is not strongly correlated to presentation or disease burden. The mechanism by which CFFD produces pain is not fully elucidated. The unique innervation of bone and the creation of new sensory nerve fibers during inflammatory states may contribute. Additionally, excess IL-6 during inflammatory states may also play a role in pain production due to lesion expansion from osteoclast activation, cystic formation within the lesion, and hormonal reactivity of the lesion. Bisphosphonates are believed to inhibit IL-6 production, reducing osteoclastic activity and leading to symptomatic pain relief. In the case presented, the patient’s chronic headaches improved significantly following combination therapy with migraine abortive medication and bisphosphonate therapy. Early recognition and multidisciplinary treatment are key in the long-term management of CFFD pain. Presentation: Thursday, June 15, 2023

Lesion Expansion in Gnathic Fibrous Dysplasia: Natural History, Indicators of Progression, and Response to Bisphosphonates.

Fibrous dysplasia (FD) is characterized by expansile fibro-osseous lesions that may occur in association with endocrinopathies as part of McCune-Albright syndrome (MAS). Craniofacial FD is a significant source of morbidity and most commonly involves the gnathic bones. There is a critical need to understand the natural history and risk factors for gnathic FD progression to develop preventative trials and identify candidates for intervention. The purpose of this study was to characterize gnathic FD lesion expansion and to identify risk factors associated with lesion growth. Patients with gnathic FD and serial CT imaging were evaluated. Volumetric analyses of CT scans were performed using MIM Encore software. Generalized mixed model analysis was used to account for intra-subject correlation, with FD lesion volume as the dependent variable. In addition to age, effects of MAS-associated endocrinopathies, sex, disease severity, and bisphosphonate treatment were evaluated. A total of 104 total lesions in 52 patients were characterized longitudinally. Median age at initial scan was 8.8 years (range 3.4-18.8), and median age at final scan was 16.8 years (range 6.9-33.4 years). The median number of scans per subject was 4 (range 2-14). FD lesion volume increased with age (2.50 cm3 /yr, 95% confidence interval [CI] 1.95-3.04, p < 0.001). However, lesion expansion rate decreased over time (-0.05 cm3 /yr, 95% CI -0.07 to 0.04, p < 0.001). Mandibular lesions tended to expand at a greater rate than maxillary lesions (p < 0.001). Growth hormone excess was associated with accelerated expansion rate (p = 0.002). Other MAS-associated endocrinopathies, pubertal status, sex, weight, lesion density, disease severity, and bisphosphonate treatment were not associated with lesion volume or expansion. Gnathic FD lesion expansion is most rapid in younger children and declines as patients approach adulthood. The availability of quantitative natural history data will guide clinicians in identifying patients who are candidates for medical and surgical interventions and clinical trials for preventative therapies. Published 2023. This article is a U.S. Government work and is in the public domain in the USA.

Long-term Outcomes Following Endoscopic Transnasal Surgery for Optic Neuropathy Due to Craniofacial Fibrous Dysplasia.

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. 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. 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. 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. 4 Laryngoscope, 133:1857-1866, 2023.

Computer-guided contouring of craniofacial fibrous dysplasia involving fronto-orbital or fronto-cranial region using patient specific surgical depth guide: A prospective case series

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.

Long-term outcomes after core extirpation of fibrous dysplasia of the zygomaticomaxillary region.

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. 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. 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. 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.

Current concepts of craniofacial fibrous dysplasia: pathophysiology and treatment.

Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slowgrowing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GαS-protein signaling and elevation of cyclic adenosine monophosphate in affected tissues. This condition has a broad clinical spectrum, ranging from insignificant solitary lesions to severe disease. The craniofacial area is the most common site of fibrous dysplasia, and nine out of 10 patients with fibrous dysplasia affecting the craniofacial bones present before the age of 5. Surgery is the mainstay of treatment, but the technique varies according to the location and severity of the lesion and associated symptoms. The timing and indications of surgery should be carefully chosen with multidisciplinary consultations and a patient-specific approach.

Integration of three-dimensional printing model into navigator-assisted surgery on fibrous dysplasia patient

Abstract Fibrous dysplasia refers to a chronic bone deformity caused by abnormal fibrotic and osseous tissue replacing normal ones. Craniofacial fibrous dysplasia can lead to facial asymmetry, which can cause misalignment of jaw, nasal airway congestion, proptosis, and vision loss. To improve facial asymmetry and preserve optic nerve function, operation is indicated. However, pathological bone at the affected ocular area can be really close to the optic nerve. Complicated and limited surgical field increased operation difficulty. Thus, precise operation is required for minimizing risk of optic nerve injury. Navigator-assisted surgery can be applied to these patients with optic nerve compression. In addition, we proposed integrating three-dimensional computer simulation into preoperational planning in navigator-assisted surgery to improve precision. Here, we present a case diagnosed as craniofacial dysplasia undergoing navigator-assisted surgery with integration of computer simulation.

Craniofacial Fibrous Dysplasia: Surgical Management and Long-Term Outcomes at a Referral Center in Mexico City.

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.

Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad.

The current study aimed to report cases of McCune Albright syndrome (MAS) with growth hormone (GH) hyper secretion along with a systematic review of literature to elucidate challenges and intricacies in its diagnosis and management. It was a single centre study carried out in individuals with MAS and autonomous GH secretion (AGHS). In addition, a systematic search of literature across three databases (PubMed, Scopus and EMBASE) was performed from inception until May 31, 2021 to identify cases of MAS with AGHS in the pediatric age group (<18 years). Three cases from authors centre and 42 cases identified from systematic literature review were analysed. Precocious puberty was the most common presenting endocrinopathy seen in 56.8% (25/44) cases, followed by hyperthyroidism (10/45), hypophosphatemia (4/45), and hypercortisolism (2/45). Cranio-facial fibrous dysplasia (CFFD) was seen in all while polyostotic fibrous dysplasia and Café au lait macule was seen in 40/45 (88.9%) and 35/45 (77.8%), respectively. Pituitary adenoma (58.3% microadenoma) was localized in 53.3% (24/45) cases on pituitary imaging. Biochemical and clinical remission of AGHS was achieved in 61.5% (24/45) cases with medical therapy. Diagnosing AGHS in MAS is challenging because of concomitant presence of CFFD, non-GH endocrinopathies associated height spurt and elevated serum IGF-1. GH-GTT should be performed in presence of elevated growth velocity and serum IGF-1 (>1 X ULN) despite adequate control of non-GH endocrinopathies. Medical management can lead to disease control in substantial number of cases and often entails use of multiple agents.

Craniofacial Fibrous Dysplasia: Clinical and Therapeutic Implications.

This study aims to review diagnosis, potential complications, and clinical management in craniofacial fibrous dysplasia. 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.

Computed Tomographic findings in Patients with Craniofacial Fibrous Dysplasia: A Case Series

Computed Tomographic findings in Patients with Craniofacial Fibrous Dysplasia: A Case Series