Journal of Craniofacial Surgery最新文献

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Hyaluronic Acid Filler Injection in the Nose in Correlation With Rhinoplasty. 透明质酸填充剂鼻内注射与鼻整形的关系。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-30 DOI: 10.1097/SCS.0000000000011455
Andrea Lazzarotto, Stefania Guida, Tito Marianetti, Luigi Colombo, Massimo Vitale, Kyu-Ho Yi
{"title":"Hyaluronic Acid Filler Injection in the Nose in Correlation With Rhinoplasty.","authors":"Andrea Lazzarotto, Stefania Guida, Tito Marianetti, Luigi Colombo, Massimo Vitale, Kyu-Ho Yi","doi":"10.1097/SCS.0000000000011455","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011455","url":null,"abstract":"<p><p>The use of hyaluronic acid (HA) fillers in both primary and revision rhinoplasties has gained increasing popularity among physicians in recent years. Although surgical rhinoplasty remains the gold standard for nasal reconstruction and correction, HA fillers provide a minimally invasive alternative with immediate results and a low morbidity rate. This study aimed to evaluate the proposed non-surgical rhinoplasty algorithm, which focuses on the correction of 4 specific anatomic points, by assessing aesthetic outcomes, patient satisfaction, and associated complications. Horizontal and vertical sagittal stability were monitored using profilometric Arnett analysis, focusing on measurements of the Nasion (Na), Rhinion (Rh), Pronasion (Prn), and Subnasal (Sn). The application of the 4 anatomic point treatment algorithm demonstrated significant improvements in nasal profile and overall facial harmony. This technique offers a safe and effective solution, avoiding the challenges associated with surgical interventions, such as scarring and general anesthesia, while ensuring high patient satisfaction.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of Molecular Alterations in the Periosteum and Analysis of Associated Signaling Pathways During the Ultra-Early Stage of Guided Bone Regeneration. 在引导骨再生的超早期阶段,骨膜分子改变的表征和相关信号通路的分析。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-30 DOI: 10.1097/SCS.0000000000011473
Yu-Xi Tang, Zhi-Qiang Fan, Chuan-Chang Dai, Jiao Wei, Bao-Fu Yu
{"title":"Characterization of Molecular Alterations in the Periosteum and Analysis of Associated Signaling Pathways During the Ultra-Early Stage of Guided Bone Regeneration.","authors":"Yu-Xi Tang, Zhi-Qiang Fan, Chuan-Chang Dai, Jiao Wei, Bao-Fu Yu","doi":"10.1097/SCS.0000000000011473","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011473","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study was to investigate the characterization of molecular alterations in the periosteum and to analyze the associated signaling pathways during the ultra-early stage of guided bone regeneration.</p><p><strong>Methods: </strong>A swine model for guided bone regeneration was developed, with one side of the rib designated as the experimental group and the contralateral side serving as the control group. The periosteum was harvested 1 day postoperatively, and total RNA was extracted. Microarray analysis was performed to identify the differences in the transcriptome between the 2 groups. Relevant signaling pathways were analyzed through bioinformatics approaches.</p><p><strong>Results: </strong>Compared with the control group, a total of 1100 genes were found to be significantly upregulated, whereas 1063 genes exhibited significantly downregulated expression in the periosteum of the experimental group. The top primarily upregulated genes included CSF3R, PADI4, SELL, and NCF1 among others. The 5 most prevalent terms included immune system processes, inflammatory responses, cellular activation; leukocyte activation, and intracellular signal transduction. The top 5 pathways primarily involve rheumatoid arthritis, phagosome, hypertrophic cardiomyopathy, calcium signaling pathway, and cytokine-cytokine receptor interaction.</p><p><strong>Conclusion: </strong>The ultra-early stage of guided bone regeneration is crucial for subsequent regenerative efficiency. In this process, the CSF3R gene and the signaling pathways related to phagosomes and cytokine-cytokine receptor interactions may play significant roles.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Art and Science of Manuscript Writing. 手稿写作的艺术与科学。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-29 DOI: 10.1097/SCS.0000000000011447
Bachar F Chaya, Noah E Alter, Muhammad Daiem, Patrick Assi, William Lineaweaver
{"title":"The Art and Science of Manuscript Writing.","authors":"Bachar F Chaya, Noah E Alter, Muhammad Daiem, Patrick Assi, William Lineaweaver","doi":"10.1097/SCS.0000000000011447","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011447","url":null,"abstract":"<p><p>Manuscript writing is essential for scientific communication, enabling researchers to share findings, refine ideas, and advance knowledge. Despite its significance, many authors struggle with structuring and articulating their work effectively. This study outlines key components of a well-crafted manuscript, providing a practical framework to enhance clarity, impact, and publication success. A structured approach to manuscript preparation is presented, detailing each section's purpose, common pitfalls, and optimization strategies. Key elements include formulating a research question, drafting a hypothesis, and navigating the peer review process. Best practices are illustrated through examples, and ethical considerations such as authorship criteria and responsible AI use in writing are discussed. A systematic breakdown of manuscript structure is provided, emphasizing strategies to improve readability, logical flow, and engagement with the intended audience. Practical recommendations for crafting impactful titles, abstracts, and discussions are included, along with guidance on responding to reviewer feedback and maximizing post-publication reach.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trapezius Myocutaneous Flap Reconstruction for the Head and Neck. 头颈部斜方肌肌皮瓣重建。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-29 DOI: 10.1097/SCS.0000000000011423
Jolly S Grewal, Malek H Bouzaher, Arya W Namin, Weitao Wang, Yadranko Ducic
{"title":"Trapezius Myocutaneous Flap Reconstruction for the Head and Neck.","authors":"Jolly S Grewal, Malek H Bouzaher, Arya W Namin, Weitao Wang, Yadranko Ducic","doi":"10.1097/SCS.0000000000011423","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011423","url":null,"abstract":"<p><strong>Introduction: </strong>The trapezius myocutaneous flap is a valuable option for reconstructing defects in the head and neck region requiring a sizeable skin paddle. This study assessed surgical outcomes of the trapezius myocutaneous flap in head and neck reconstruction, specifically focusing on defects of the lateral temporal bone, lateral neck, and scalp or posterior midline neck.</p><p><strong>Methods: </strong>This retrospective study analyzed patients grouped by site of defect within the head and neck. Subgroup analysis was performed.</p><p><strong>Results: </strong>Overall rates of complication for the lateral temporal bone and lateral neck were 14.5% and 21.1%, respectively. The odds of complications in the scalp and midline posterior neck site were significantly higher (2.94 times higher) than in patients with a temporal bone defect site (odds ratio=2.94, P=0.027).</p><p><strong>Conclusions: </strong>The trapezius flap is useful when reconstructing the lateral temporal bone and lateral neck defects, likely due to a more favorable arc of rotation.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Application of a 3D-Printed Personalized Cranial Defect Flap Support Device in the Treatment of Severe Ipsilateral Subgaleal Effusion Following Decompressive Craniectomy: A Technical Note. 3d打印个性化颅骨缺损皮瓣支持装置在治疗颅骨减压术后严重同侧腓骨下积液中的应用:技术说明。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-29 DOI: 10.1097/SCS.0000000000011454
Bao He, Yang Luo, Xi-Feng Fei, Zhixiang Sun, Lei Shi, Jin Qian, Shizhong Cai
{"title":"Application of a 3D-Printed Personalized Cranial Defect Flap Support Device in the Treatment of Severe Ipsilateral Subgaleal Effusion Following Decompressive Craniectomy: A Technical Note.","authors":"Bao He, Yang Luo, Xi-Feng Fei, Zhixiang Sun, Lei Shi, Jin Qian, Shizhong Cai","doi":"10.1097/SCS.0000000000011454","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011454","url":null,"abstract":"<p><p>This technical note introduces the application of a 3D-printed personalized cranial defect flap support device for the treatment of severe ipsilateral subgaleal effusion (SISE) after decompressive craniectomy (DC). By closely fitting this device to the cranial defect, significant improvements were observed, including the resolution of subgaleal effusion, restoration of midline structures, and facilitation of neurological recovery. This report provides a detailed description of the design and manufacturing process of the device and highlights its therapeutic effects through comparative CT imaging of a representative patient. These findings underscore the potential of this innovative device in enhancing postoperative management of SISE.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Satisfaction of Caregivers of Patients With Cleft Lip-Palate at the Khoula Hospital Cleft Center. 库拉医院唇腭裂中心护理人员对唇腭裂患者的满意度调查
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-29 DOI: 10.1097/SCS.0000000000011427
Khalifa Al Alawi, Sondus Al Jadeedi, Sultan Al Shaqsi
{"title":"Satisfaction of Caregivers of Patients With Cleft Lip-Palate at the Khoula Hospital Cleft Center.","authors":"Khalifa Al Alawi, Sondus Al Jadeedi, Sultan Al Shaqsi","doi":"10.1097/SCS.0000000000011427","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011427","url":null,"abstract":"<p><p>Existing literature has explored the perspectives of parents of children with cleft lip and/or palate; however, there is a lack of studies addressing parental satisfaction within the Khoula Hospital health care system. The aim of this study was to assess caregiver satisfaction with the cleft care services at Khoula Hospital. A qualitative, questionnaire-based study was distributed to caregivers of children born with cleft lip and/or palate who underwent surgical repair between 2010 and 2024. The study was conducted at the comprehensive cleft center at Khoula Hospital. A total of 797 caregivers participated in the study. Participants reported overall satisfaction with the general cleft care services, although many expressed a desire for the establishment of a combined clinic. Although most caregivers of children with cleft lip and/or palate expressed satisfaction with their children's care, those who were dissatisfied suggested feasible improvements that could enhance the involvement of parents as integral members of the craniofacial team, fostering a more constructive and positive partnership.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nebuchadnezzar's Transformation Related to Modern Plastic Surgery. 尼布甲尼撒的转变与现代整形外科有关。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-29 DOI: 10.1097/SCS.0000000000011429
Anna Jeon, Kun Hwang, Seung-Ho Han
{"title":"Nebuchadnezzar's Transformation Related to Modern Plastic Surgery.","authors":"Anna Jeon, Kun Hwang, Seung-Ho Han","doi":"10.1097/SCS.0000000000011429","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011429","url":null,"abstract":"<p><p>Metamorphosis is a rare theme in Hebrew tradition, yet the transformation of King Nebuchadnezzar in Daniel 4 offers profound insights into themes of humility, redemption, and renewal. This study explores Nebuchadnezzar's beastly transformation, marked by long hair, overgrown nails, and animalistic behavior, as a metaphorical framework for modern plastic and reconstructive surgery. His eventual restoration to human form parallels the journey of reconstructive patients recovering from disfigurement or trauma, addressing both aesthetic and psychological challenges. The transformation highlights 3 key themes: (1) the consequences of hubris and the value of humility, (2) the reversibility of physical degradation and the hope of renewal, and (3) the restoration of identity and dignity. In reconstructive surgery, Nebuchadnezzar's story finds modern clinical parallels. Patients who experience disfigurement often feel \"dehumanized,\" much like the king during his transformation. Surgical interventions-whether through skin grafts, free flaps, or 3D-printed prosthetics-restore not only physical appearance but also a sense of identity and self-worth. The narrative underscores the surgeon's role in addressing both visible scars and psychological wounds, emphasizing the need for a holistic approach that balances aesthetics, functionality, and emotional recovery. Nebuchadnezzar's tale also cautions against excessive pride, drawing ethical parallels to the necessity of surgical restraint in modern practice. By aligning patient expectations with realistic outcomes, surgeons ensure interventions prioritize well-being over vanity. In conclusion, the story of Nebuchadnezzar serves as a compelling allegory for the transformative potential of reconstructive surgery, embodying the restoration of humanity, dignity, and identity through both physical and emotional healing.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary Submandibular Gland Squamous Cell Carcinoma. 原发性颌下腺鳞状细胞癌。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-29 DOI: 10.1097/SCS.0000000000011413
Jed Speers, Hannah Walker, Sameep P Kadakia
{"title":"Primary Submandibular Gland Squamous Cell Carcinoma.","authors":"Jed Speers, Hannah Walker, Sameep P Kadakia","doi":"10.1097/SCS.0000000000011413","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011413","url":null,"abstract":"<p><p>This case report and review examines the rare diagnosis and treatment of primary submandibular gland squamous cell carcinoma (SCC). In this paper, the authors report a case of primary submandibular gland squamous cell carcinoma from their institution. The authors then searched PubMed, ScienceDirect, and WileyOnline Library databases for previous case reports of this disease. The authors collected and reported the following: patient demographics, presentation, physical examination, lymph node involvement, histopathology, treatments, and patient outcomes. Thirteen case reports were found from 1992 to 2024. Primary submandibular gland squamous cell carcinoma, characterized by a diagnosis of exclusion, is a rare and aggressive malignancy best treated by a multidisciplinary team and likely treated with surgery and radiotherapy. Because it is a rare occurrence, it is essential to understand what primary submandibular gland squamous cell carcinoma is and how to best manage patients with this condition.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intraoperative Lactate Level as a Predictor of Resuscitation in Open Cranial Vault Reconstruction. 术中乳酸水平作为开放颅拱顶重建复苏的预测指标。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-28 DOI: 10.1097/SCS.0000000000011439
Sofia A Finestone, Jennifer Goldman, Kennedy H Sun, Melanie Bakovic, Md Sohel Rana, Athena Zhang, Esperanza Mantilla-Rivas, Sophie R Pestieau, Albert K Oh, Gary F Rogers
{"title":"Intraoperative Lactate Level as a Predictor of Resuscitation in Open Cranial Vault Reconstruction.","authors":"Sofia A Finestone, Jennifer Goldman, Kennedy H Sun, Melanie Bakovic, Md Sohel Rana, Athena Zhang, Esperanza Mantilla-Rivas, Sophie R Pestieau, Albert K Oh, Gary F Rogers","doi":"10.1097/SCS.0000000000011439","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011439","url":null,"abstract":"<p><p>Open cranial vault reconstructions (CVR) involve significant blood loss, and adequate resuscitation is crucial. Common metrics like heart rate (HR), mean arterial pressure (MAP), and urine output (UO) are ubiquitously used but are less sensitive than lactate levels for detecting cellular and tissue hypoxia. The purpose of this study is to evaluate whether physiological markers of resuscitation correlate with intraoperative lactate levels. A retrospective review of CVR patients at our institution (2013-2021) was conducted to collect intraoperative data including lactate AABLals. Among 148 patients with craniosynostosis (median age at surgery 1.3 y, IQR 0.8-3.2), 86.5% were non-syndromic, and 65.5% had no chronic health conditions. 17.6% of cases experienced at least one instance of elevated intraoperative lactate but showed no correlation with HR or MAP. Hyperlactatemia was associated with higher weight, lower preoperative hematocrit, and decreased UO. Each 1 kg increase in weight raised the odds of hyperlactatemia by 38% (P=0.004). Conversely, each 1% increase in preoperative hematocrit reduced hyperlactatemia odds by 20% (P=0.016). In addition, each 100 ml increase in UO reduced hyperlactatemia odds by 37% (P=0.008). No correlation was identified between hyperlactatemia and postoperative complications. Intraoperative lactate levels do not directly correlate with conventional measures of hemodynamic stability. Hyperlactatemia was inversely correlated with UO and hematocrit, thus suggesting the importance of optimizing these parameters. On the basis of these findings, the authors caution against strict reliance on vitals for assessment of resuscitation during open CVR.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integration of Clinical, Radiographic, Histologic, and Molecular Findings to Diagnose Craniofacial Fibrous Dysplasia. 综合临床、影像学、组织学和分子表现诊断颅面纤维发育不良。
IF 1 4区 医学
Journal of Craniofacial Surgery Pub Date : 2025-04-28 DOI: 10.1097/SCS.0000000000011431
Brandi M Golden, Scott K Tucker, Marco Carpenter, Mariarita Santi, Angela N Viaene, William H Peranteau, Jordan W Swanson, Scott P Bartlett, Jesse A Taylor, Eric C Liao
{"title":"Integration of Clinical, Radiographic, Histologic, and Molecular Findings to Diagnose Craniofacial Fibrous Dysplasia.","authors":"Brandi M Golden, Scott K Tucker, Marco Carpenter, Mariarita Santi, Angela N Viaene, William H Peranteau, Jordan W Swanson, Scott P Bartlett, Jesse A Taylor, Eric C Liao","doi":"10.1097/SCS.0000000000011431","DOIUrl":"https://doi.org/10.1097/SCS.0000000000011431","url":null,"abstract":"<p><p>Fibrous dysplasia (FD) is a benign bone tumor consisting of fibrotic deposits interwoven with disorganized bone. Craniofacial FD is characterized by progressive expansile overgrowth resulting in facial disfigurement, vision loss, jaw disfunction, and pain. Diagnosis is often made by clinical presentation and suggestive radiographic findings, with histologic and genetic analyses recommended in questionable cases. However, genetic testing of the FD lesions can lead to false negatives, as lesions contain both normal and neoplastic cells. To explore the concordance between FD diagnostic tools, we evaluated clinical history, imaging, histology, and genetic testing of 6 cases. Six subjects presented with abnormal bony overgrowth and imaging suggestive of FD. Histologic examination of excised FD lesions revealed 4 cases with pathologic findings consistent with FD, 1 case diagnosed as juvenile psammomatoid ossifying fibroma (JPOF), and 1 with a vascular malformation. Given that somatic mosaicism underpins FD pathogenesis, targeted sequencing of the GNAS gene was performed from different tissue sources, including blood, bone lesion, and primary bone cell culture. GNAS pathogenic gene variants were detected in the lesion of all 6 cases, including the case demonstrating JPOF histologic features. The authors found the mutational burden of cells containing the pathogenic GNAS variant ranges from 35.8% to 46.8% in abnormal bone and 31.0% to 49.7% in cultured stromal cells. The variable correlation of the radiographic, histologic, and molecular diagnosis in this study highlights the clinical heterogeneity of FD and challenges in accurate diagnosis. By culturing primary stromal cells, the authors provide source material for somatic molecular diagnosis and future experiments.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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