Oral Surgery Oral Medicine Oral Pathology Oral Radiology最新文献

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Mapping Ibero-American nonprofit efforts in advocacy for head and neck cancer patients: a scoping review 绘制伊比利亚-美洲倡导头颈癌患者的非营利努力:范围审查。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-03-01 Epub Date: 2025-10-24 DOI: 10.1016/j.oooo.2025.10.010
Mateus José Dutra , Lucas Freitas Carnevali , Lauren Frenzel Schuch , Felipe Martins Silveira , Alan Roger Santos-Silva , Manoela Domingues Martins , Vivian Petersen Wagner
{"title":"Mapping Ibero-American nonprofit efforts in advocacy for head and neck cancer patients: a scoping review","authors":"Mateus José Dutra ,&nbsp;Lucas Freitas Carnevali ,&nbsp;Lauren Frenzel Schuch ,&nbsp;Felipe Martins Silveira ,&nbsp;Alan Roger Santos-Silva ,&nbsp;Manoela Domingues Martins ,&nbsp;Vivian Petersen Wagner","doi":"10.1016/j.oooo.2025.10.010","DOIUrl":"10.1016/j.oooo.2025.10.010","url":null,"abstract":"<div><h3>Objectives</h3><div>To map the landscape of non-profit groups or organizations (NPGorO) in the Ibero-American Region (IAR) supporting patients with head and neck cancer (HNC) and identify and characterize their main activities.</div></div><div><h3>Study Design</h3><div>A scoping review was conducted through PubMed, LILACS, Scielo, Google Scholar, ProQuest, and open databases. Articles mentioning any NPGorO related to HNC or thyroid cancer in the IAR were included, despite their differing epidemiology and clinical context.</div></div><div><h3>Results</h3><div>Nineteen NPGorO were identified: 3 in Brazil and Spain (15.78% each), 2 in Argentina and Chile (10.52% each). Other 9 countries each had one organization (5.26%). Most were founded by patients and family members (n = 13; 68.42%). Most websites (n = 18; 94.73%) provided information on risk factors, signs, symptoms, screening, diagnosis, and treatment. 16 NPGorO (84.21%) had a Facebook page, and fewer than half were on other social media.</div></div><div><h3>Conclusions</h3><div>NPGorO play a key social role in IAR countries, yet many, especially in Latin America, still lack advocacy groups for patients facing diagnostic and treatment disparities. Beyond support, these organizations can provide clinicians with patient guidance and serve as platforms for researchers to engage patient populations and promote study participation.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"141 3","pages":"Pages 343-350"},"PeriodicalIF":1.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145598042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Denosumab treatment in a sporadic case of cherubism: a rare pediatric fibro-osseous disorder. Denosumab治疗散发性小天使病:一种罕见的小儿纤维骨性疾病。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-28 DOI: 10.1016/j.oooo.2026.02.014
Gamze Mutlucan Köseoğlu, Gönül Büyükyılmaz, Seda Şahin, Arzu Yazal Erdem, Neriman Sarı, Rana Beyoğlu, Esra Kılıç
{"title":"Denosumab treatment in a sporadic case of cherubism: a rare pediatric fibro-osseous disorder.","authors":"Gamze Mutlucan Köseoğlu, Gönül Büyükyılmaz, Seda Şahin, Arzu Yazal Erdem, Neriman Sarı, Rana Beyoğlu, Esra Kılıç","doi":"10.1016/j.oooo.2026.02.014","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.014","url":null,"abstract":"<p><p>Cherubism is a rare, benign fibro-osseous disorder affecting the mandible and maxilla. It is commonly inherited due to monoallelic gain-of-function mutations in the SH3BP2 gene. It presents in early childhood with bilateral, painless jaw swelling and dental malposition, often regressing after puberty. Depending on symptom severity, medical treatments (bisphosphonates, calcitonin, and denosumab) may be considered in selected cases. We present a case of progressive cherubism in a 6-year-old girl exhibiting bilateral jaw enlargement and swallowing difficulties. The diagnosis was confirmed by identifying a pathogenic variant in the SH3BP2 gene. Due to the severity of the clinical presentation, denosumab therapy was initiated using a body surface area-based pediatric regimen (60 mg subcutaneously on days 1, 8, 15, and 28, followed by monthly dosing; 19 doses total). Following treatment, both clinical and radiological improvements were observed. However, there were clinically significant disturbances in calcium homeostasis that required medical management. This case highlights the potential efficacy of denosumab in selected pediatric patients with severe cherubism, while underscoring the importance of individualized dosing, structured biochemical surveillance, and long-term follow-up.</p>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147516125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Caution regarding clinical interpretation of convolutional neural network performance in the histopathological differentiation of salivary gland tumors. 关于卷积神经网络在唾液腺肿瘤组织病理分化中的表现的临床解释的注意事项。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-28 DOI: 10.1016/j.oooo.2026.02.012
Kuldeep Singh, Sourendra Nath Basu
{"title":"Caution regarding clinical interpretation of convolutional neural network performance in the histopathological differentiation of salivary gland tumors.","authors":"Kuldeep Singh, Sourendra Nath Basu","doi":"10.1016/j.oooo.2026.02.012","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.012","url":null,"abstract":"","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Optimizing care for patients with maxillomandibular Gorham-Stout disease. 上颌下颌骨Gorham-Stout病患者的优化护理。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-26 DOI: 10.1016/j.oooo.2026.02.013
Quentin Hennocq, Jean Donadieu, Jebrane Bouaoud, Thomas Schouman, Chloé Bertolus, Jean-Philippe Foy
{"title":"Optimizing care for patients with maxillomandibular Gorham-Stout disease.","authors":"Quentin Hennocq, Jean Donadieu, Jebrane Bouaoud, Thomas Schouman, Chloé Bertolus, Jean-Philippe Foy","doi":"10.1016/j.oooo.2026.02.013","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.013","url":null,"abstract":"<p><strong>Objective: </strong>Gorham Stout disease (GSD) is an osteolysis caused by abnormal vessels, the etiology of which is not fully understood. Maxillary and/or mandibular destruction is found in nearly 20% of cases. We aimed to propose a management algorithm to ensure a successful surgical reconstruction.</p><p><strong>Study design: </strong>We conducted a systematic literature review of all maxillo-mandibular cases of GSD, with data on treatments and follow-up. We have added our two cases of patients with GSD to the published case series. We then performed a logistic regression analysis, using response to treatment as the dependent variable, i.e., resolution of clinical symptoms and radiological osteolysis.</p><p><strong>Results: </strong>A total of 100 patients (including the two cases we managed) with GSD and primary maxillary and/or mandibular involvement were included. Only radiotherapy was significantly associated with disease remission (OR = 7.363 [1.140-47.54], P = .044). The reconstructive surgery performed on the patient without osteolysis stabilization was not stabilized, showed a recurrence of the disease, and resorption of the fibula flap.</p><p><strong>Conclusions: </strong>This study highlights the importance of strict control of the disease before any major reconstructive surgery for the patient. Radiotherapy appeared to be the only significant factor in our model for disease control.</p>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147616973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Effective treatment of pediatric orofacial granulomatosis secondary to Crohn's disease with infliximab: a case report and review of literature. 英夫利昔单抗有效治疗克罗恩病继发儿童口面部肉芽肿1例报告及文献复习
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-25 DOI: 10.1016/j.oooo.2026.02.016
Khushboo Gupta, Nivethitha Nagarajan, Sivappiriyai Veluppillai
{"title":"Effective treatment of pediatric orofacial granulomatosis secondary to Crohn's disease with infliximab: a case report and review of literature.","authors":"Khushboo Gupta, Nivethitha Nagarajan, Sivappiriyai Veluppillai","doi":"10.1016/j.oooo.2026.02.016","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.016","url":null,"abstract":"<p><strong>Introduction: </strong>Orofacial granulomatosis (OFG) is a rare inflammatory disorder of the oral and perioral tissues that may occur in isolation or as an early manifestation of Crohn's disease (CD). Its variable presentation often delays recognition of the underlying systemic disease.</p><p><strong>Case report: </strong>An 8-year-old boy presented with persistent perioral erythema, lip swelling, cobblestone-like gingival changes, and gastrointestinal symptoms, including constipation and perianal discomfort. Initial differential diagnoses included OFG and angioedema. Early lab tests and labial mucosa biopsy were nonspecific, delaying diagnosis. Repeat biopsies of mandibular gingiva and buccal mucosa revealed noncaseating granulomatous inflammation, confirming OFG. Elevated anti-Saccharomyces cerevisiae antibodies (ASCA IgG) prompted endoscopy, which confirmed CD 9 months after initial oral symptom onset. Systemic therapy with infliximab led to rapid and substantial improvement of oral lesions, perioral swelling, and functional impairment.</p><p><strong>Conclusion: </strong>This case highlights that OFG can represent an early presentation of CD, emphasizing the need for careful biopsy, longitudinal follow-up, and multidisciplinary evaluation. It also demonstrates the effectiveness of biologic therapy with infliximab in managing severe OFG and preventing long-term orofacial complications.</p>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Incidental multilocular radiolucencies of the mandibular angle. 下颌角偶发的多室辐射率。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-25 DOI: 10.1016/j.oooo.2026.02.017
Ibrahim S Alsanie, Rasha S Alrasheed, Ohoud N AlOtaibi, Osama G Alghamdi, Mohammed A Bin-Salah, Rana S Alshagroud
{"title":"Incidental multilocular radiolucencies of the mandibular angle.","authors":"Ibrahim S Alsanie, Rasha S Alrasheed, Ohoud N AlOtaibi, Osama G Alghamdi, Mohammed A Bin-Salah, Rana S Alshagroud","doi":"10.1016/j.oooo.2026.02.017","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.017","url":null,"abstract":"","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Incidental detection of sellar spine on a CBCT volume: clinical and radiographic considerations. 在CBCT体积上偶然发现鞍椎:临床和放射学考虑。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-24 DOI: 10.1016/j.oooo.2026.01.030
Almas Binnal, Joseph Katz, Anita Gohel
{"title":"Incidental detection of sellar spine on a CBCT volume: clinical and radiographic considerations.","authors":"Almas Binnal, Joseph Katz, Anita Gohel","doi":"10.1016/j.oooo.2026.01.030","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.01.030","url":null,"abstract":"<p><p>Sellar spine (SS) is a developmental anomaly of the pituitary fossa resulting in a bony spur projection anteriorly from the dorsum sellae. Etiology remains unclear; however, the most prevalent hypothesis is that it is a remnant of the notochord. SS is a rare entity with a few reported cases exclusively in neuroradiological and neurosurgical literature. It can be asymptomatic in many patients; however, it may cause various endocrinological and ophthalmological symptoms because it impinges on the pituitary gland. The current case report presents an incidental finding of SS in a 12-year-old male whose cone beam computed tomography was taken for dental treatment. Follow-up imaging taken after 3 years revealed an increase in the size of the spine, validating the previous claims that SS will grow over time. This case report presents an early detection of SS in a preadolescent, providing an opportunity for long-term follow-up to evaluate its temporal evolution, and will help establish the clinical profile of these patients. Furthermore, it highlights the role of oral radiologists in the early identification of the SS when viewing cone beam computed tomography.</p>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Reactive gingival lesions: a multicenter study of 8,625 cases from South America. 反应性牙龈病变:一项来自南美洲8625例的多中心研究。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-20 DOI: 10.1016/j.oooo.2026.02.011
Israel Leal Cavalcante, Caio César da Silva Barros, Maria Luisa Paparella, Krissya Villegas, Nathalie Amaya, Eveline Turatti, Roberta Barroso Cavalcante, Luiza Maria Silva Aderaldo, Elton Fernandes Barros, Maurília Raquel de Souto Medeiros, Pollianna Muniz Alves, Cassiano Francisco Weege Nonaka, Éricka Janine Dantas da Silveira, Julia Biliato Javaroni, Magdalena Raquel Torres Reyes, Jorge Esquiche León, Kallana Mezzomo Faccin, Rogério Gondak, Gerardo Gilligan, René Panico, Juan Cruz Romero Panico, Francisco Frascaroli, Cleiton Rone Dos Santos Lima, Luciano Alberto de Castro, Diego Antônio Costa Arantes, Elismauro Francisco de Mendonça, Juan Manuel Arteaga Legarrea, Patrícia Carlos Caldeira, Felipe Paiva Fonseca, Flavio Veiga do Pilar Cobra, José Victor Lemos Ventura, Ericles Otávio Santos, José Alcides Almeida de Arruda, Jefferson R Tenório, Michelle Agostini, Maria Augusta Visconti, Bruno Augusto Benevenuto de Andrade
{"title":"Reactive gingival lesions: a multicenter study of 8,625 cases from South America.","authors":"Israel Leal Cavalcante, Caio César da Silva Barros, Maria Luisa Paparella, Krissya Villegas, Nathalie Amaya, Eveline Turatti, Roberta Barroso Cavalcante, Luiza Maria Silva Aderaldo, Elton Fernandes Barros, Maurília Raquel de Souto Medeiros, Pollianna Muniz Alves, Cassiano Francisco Weege Nonaka, Éricka Janine Dantas da Silveira, Julia Biliato Javaroni, Magdalena Raquel Torres Reyes, Jorge Esquiche León, Kallana Mezzomo Faccin, Rogério Gondak, Gerardo Gilligan, René Panico, Juan Cruz Romero Panico, Francisco Frascaroli, Cleiton Rone Dos Santos Lima, Luciano Alberto de Castro, Diego Antônio Costa Arantes, Elismauro Francisco de Mendonça, Juan Manuel Arteaga Legarrea, Patrícia Carlos Caldeira, Felipe Paiva Fonseca, Flavio Veiga do Pilar Cobra, José Victor Lemos Ventura, Ericles Otávio Santos, José Alcides Almeida de Arruda, Jefferson R Tenório, Michelle Agostini, Maria Augusta Visconti, Bruno Augusto Benevenuto de Andrade","doi":"10.1016/j.oooo.2026.02.011","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.011","url":null,"abstract":"<p><strong>Objective: </strong>This study analyzed the frequency and clinical features of reactive gingival lesions (RGL) across South America.</p><p><strong>Study design: </strong>This observational, cross-sectional, multicenter study was based on retrospective data from 10 oral pathology centers in Brazil and Argentina (1996-2022). Cases of RGL with a confirmed histopathological diagnosis were included. The variables analyzed comprised age, sex, skin color, anatomical site, clinical characteristics of the lesion, biopsy type, and clinical diagnostic hypothesis. Data were obtained from histopathological reports and analyzed descriptively and analytically.</p><p><strong>Results: </strong>RGL accounted for 6.1% (n = 8,625) of oral biopsies. Females were more frequently affected (n = 5,851; 68.1%) with a median age of 47 years. The most common lesions were inflammatory fibrous hyperplasia (40.8%), fibrous hyperplasia (21.3%), and pyogenic granuloma (16.1%). Most cases were asymptomatic (88.6%), sessile (64.9%), and exhibited red/pink coloration. Clinical-histopathological agreement was minimal (kappa = 0.229), with giant cell fibroma showing the lowest level of agreement.</p><p><strong>Conclusion: </strong>RGL represent a relevant proportion of oral biopsies in South America and predominantly affect adult women. Their clinical presentation is largely nonspecific, reinforcing diagnostic challenges in routine practice. Inclusion of less emphasized entities, such as giant cell fibroma and traumatic neuroma, broadens the clinical perspective.</p>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147616929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Response to letter to the editor: letter to the editor on "Does preoperative antiresorptive medication affect total temporomandibular joint replacement outcomes". 对致编辑的信的回复:致编辑关于“术前抗吸收药物是否影响全颞下颌关节置换术的结果”的信。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-20 DOI: 10.1016/j.oooo.2026.02.005
Mahdi Zakeri, Jordan Manley, Patrick Louis, Brian Emory Kinard
{"title":"Response to letter to the editor: letter to the editor on \"Does preoperative antiresorptive medication affect total temporomandibular joint replacement outcomes\".","authors":"Mahdi Zakeri, Jordan Manley, Patrick Louis, Brian Emory Kinard","doi":"10.1016/j.oooo.2026.02.005","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.005","url":null,"abstract":"","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147616933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Oral and maxillofacial manifestations of lipoid proteinosis with a novel ECM1 mutation: case report and literature review. 一种新的ECM1突变的脂质蛋白沉积症的口腔和颌面表现:病例报告和文献复习。
IF 1.9 3区 医学
Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2026-02-18 DOI: 10.1016/j.oooo.2026.02.010
Suxuan Xu, Qiyu Chen, Lei Zhang, He Zhang, Juan Wu, Wenlei Wu
{"title":"Oral and maxillofacial manifestations of lipoid proteinosis with a novel ECM1 mutation: case report and literature review.","authors":"Suxuan Xu, Qiyu Chen, Lei Zhang, He Zhang, Juan Wu, Wenlei Wu","doi":"10.1016/j.oooo.2026.02.010","DOIUrl":"https://doi.org/10.1016/j.oooo.2026.02.010","url":null,"abstract":"<p><p>Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by pathogenic variants in the extracellular matrix protein 1 (ECM1) gene. LP is characterized by infant-onset hoarseness, moniliform blepharosis, skin papulonodules, and tongue firmness. The literature on LP is predominantly dermatology-focused, while detailed descriptions of oral involvement remain scattered. Herein, we present a case with comprehensive oral documentation. The patient exhibited widespread oral mucosal involvement by waxy, yellow-white plaques and nodules, resulting in diffuse thickening of the masticatory, lining, and specialized mucosa. The diagnosis was confirmed based on the histopathology findings of PAS-positive hyaline deposits in the buccal mucosa. Genetic testing identified a novel homozygous ECM1 frameshift variant (c.1401delC). This case report provides a practical reference for dental professionals, offers genetic counseling insights for affected families, and expands the mutational spectrum of ECM1.</p>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147610494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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