Special Care in Dentistry最新文献

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Oral Health and Oral Hygiene Status Among the Particularly Vulnerable Tribal Groups (PVTGs) of India: A Systematic Review and Meta-Analysis. 印度特别脆弱部落群体(pvtg)的口腔健康和口腔卫生状况:系统回顾和荟萃分析。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70156
Gunjan Kumar, Payal Dash
{"title":"Oral Health and Oral Hygiene Status Among the Particularly Vulnerable Tribal Groups (PVTGs) of India: A Systematic Review and Meta-Analysis.","authors":"Gunjan Kumar, Payal Dash","doi":"10.1111/scd.70156","DOIUrl":"https://doi.org/10.1111/scd.70156","url":null,"abstract":"<p><strong>Introduction: </strong>Particularly vulnerable tribal groups (PVTGs) in India constitute a socioeconomically marginalized population, often residing in remote regions with limited access to basic health services, including oral healthcare. Despite their vulnerability, comprehensive data on their oral health status remain scarce. This study aimed to evaluate the prevalence of oral diseases-particularly dental caries, periodontal conditions, and tobacco use-among PVTG populations in India.</p><p><strong>Methods: </strong>A thorough search was done across databases such as PubMed, Scopus, Web of Science, Science Direct, EBSCO, Google Scholar, and DOAJ to identify studies reporting oral health outcomes among Particularly Vulnerable Tribal Groups (PVTGs). Study selection and methodological quality appraisal were performed using the Joanna Briggs Institute (JBI) checklist for prevalence studies. Relevant data were extracted and pooled using random-effects meta-analysis. Meta-regression, subgroup analyses, and sensitivity analyses were undertaken to explore sources of heterogeneity and assess the robustness of pooled estimates.</p><p><strong>Results: </strong>Twelve studies encompassing 7002 participants from diverse PVTG communities across India were included. The pooled prevalence of 6-8 mm periodontal pockets was 17% (95% CI: 8%-29%), while loss of attachment ≥6 mm was found in 27% (95% CI: 10%-50%). Smokeless tobacco use showed a high pooled prevalence of 39% (95% CI: 15%-66%). Poor oral hygiene, heavy calculus accumulation, and high caries burden were consistently reported. Substantial heterogeneity was noted across outcomes (I<sup>2</sup> > 90%).</p><p><strong>Conclusion: </strong>PVTG populations experience a disproportionately high burden of oral diseases driven by poor oral hygiene, widespread tobacco use, and inadequate access to dental care. These findings underscore the urgent need for culturally sensitive, community-based oral health interventions and integration of dental services into tribal welfare and public health programs.</p><p><strong>Trial registration: </strong>PROSPERO number: CRD420251015301.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70156"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147435897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of Oral Pathologies in Patients With Schizophrenia and Bipolar Disorder: A Quantitative Systematic Review. 精神分裂症和双相情感障碍患者口腔病理的患病率:一项定量系统综述。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70150
Verónica Ferrada Quiroz, Aida Rubio Ortiz, Gina Pennacchiotti Vidal, Carolina Arriagada Vargas
{"title":"Prevalence of Oral Pathologies in Patients With Schizophrenia and Bipolar Disorder: A Quantitative Systematic Review.","authors":"Verónica Ferrada Quiroz, Aida Rubio Ortiz, Gina Pennacchiotti Vidal, Carolina Arriagada Vargas","doi":"10.1111/scd.70150","DOIUrl":"10.1111/scd.70150","url":null,"abstract":"<p><strong>Aim: </strong>Psychiatric disorders such as schizophrenia (SCZ) and bipolar disorder (BD), significantly affect individuals' overall health. Despite their high susceptibility to developing oral diseases, such as dental caries (DC), periodontal disease (PD) and oral mucosal lesions (OML), oral health has been insufficiently addressed in this population. The aim of this study was to identify the prevalence of oral diseases in people with SCZ and BD.</p><p><strong>Methods and results: </strong>A quantitative systematic review was conducted following the PRISMA guidelines. Studies in English and Spanish published between 2014 and 2024 were included, using the PubMed, Web of Science (WOS), LILACS, and SciELO databases. Research reporting the prevalence of DC, PD, and OML in adults with SCZ and/or BD were selected. Cohort, cross-sectional, case-control studies, and clinical trials were considered. A total of 46 articles were identified, 15 of which met the inclusion criteria. A high prevalence of DC and PD was observed, associated with the use of psychotropic medications, prolonged hospitalizations, advanced age, extrapyramidal symptoms and poor oral hygiene.</p><p><strong>Conclusion: </strong>Patients with SCZ and BD have a higher risk for oral diseases and face barriers to accessing oral care, in comparison with patients without SCZ and BD. It is necessary to implement interdisciplinary strategies for prevention and treatment that are urgently needed.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70150"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147435933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molar Incisor Hypomineralization and Morphological Defects Following Pediatric Septicemia: A Case Report. 儿童败血症后磨牙切牙低矿化和形态缺陷1例报告。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70175
Berenice Cheng, Samah Omar
{"title":"Molar Incisor Hypomineralization and Morphological Defects Following Pediatric Septicemia: A Case Report.","authors":"Berenice Cheng, Samah Omar","doi":"10.1111/scd.70175","DOIUrl":"https://doi.org/10.1111/scd.70175","url":null,"abstract":"<p><strong>Introduction: </strong>Early-childhood septicemia may disrupt odontogenesis, yet documented dental sequelae remain limited. This report outlines the clinical and radiographic features of two pediatric septicemia survivors who later developed molar-incisor hypomineralization (MIH) and morphological tooth defects.</p><p><strong>Methods: </strong>Two pediatric patients (ages 12 and 6) with documented early-life methicillin-sensitive Staphylococcus aureus (MSSA) and Neisseria meningitidis were evaluated. Both exhibited MIH, limb amputations, chronic lifelong medical comorbidities, limb amputations, and dental morphological anomalies initially interpreted as supernumerary teeth requiring aggressive surgical intervention. Relevant literature was reviewed, and treatment planning was refined to emphasize conservative, restorative management informed by suspect pathogenesis.</p><p><strong>Results: </strong>Although the association between MIH, early childhood illness, and antibiotic exposure is established, morphological anomalies are less frequently described. Published reports of meningococcal septicemia document similar developmental abnormalities to those observed in our patients. Diagnostic and prognostic insight modified management from anticipated surgical extraction to staged rehabilitation and long-term prosthodontic planning.</p><p><strong>Conclusions: </strong>Early-life septicemia during critical periods of odontogenesis may contribute to distinctive enamel and morphological defects. Awareness of these presentations can support earlier identification, closer preventive monitoring, and informed interdisciplinary care for medically compromised children with a history of septicemia.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70175"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Treatment Modification Strategies Utilized in the Management of Patients With Intellectual Disabilities. 智力障碍患者治疗调整策略的评价。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70167
Rashid Ajarmeh, Amanda Reisman, Miriam R Robbins, Alicia Risner-Bauman
{"title":"Evaluation of Treatment Modification Strategies Utilized in the Management of Patients With Intellectual Disabilities.","authors":"Rashid Ajarmeh, Amanda Reisman, Miriam R Robbins, Alicia Risner-Bauman","doi":"10.1111/scd.70167","DOIUrl":"https://doi.org/10.1111/scd.70167","url":null,"abstract":"<p><strong>Background: </strong>This study evaluated the success of non-pharmacological management techniques in allowing patients with intellectual disabilities (ID) who had a previous history of receiving dental care under general anesthesia (GA) to receive oral disease management without pharmacological intervention.</p><p><strong>Methods: </strong>A retrospective chart review of 112 adult patients with ID was conducted in the Personalized Care Suite for Persons with Disabilities at Penn Dental Medicine. Patients were grouped based on their prior history of dental treatment with or without GA. Their treatment outcomes were measured across four categories: completion of planned treatments, treatment plan progress, behavioral interventions used during non-invasive procedures, and the ability of individuals with a prior history of GA to complete invasive procedures.</p><p><strong>Results: </strong>It was found that 73% of those with a history of GA were able to complete invasive dental procedures using non-pharmacological behavioral management techniques. Although multiple visits were necessary to complete dental procedures, ID patients with previous dental treatment under GA successfully received dental care in an outpatient setting without sedation.</p><p><strong>Conclusion: </strong>These findings support the focus on shifting dental care for persons with disabilities from relying on GA to incorporating non-pharmacological behavioral management techniques through repeated outpatient visits.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70167"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147634769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The TRIAD-OH Model: A Systems Innovation Integrating One Health and Dental Public Health to Advance Special Care Dentistry and Global Disability-Inclusive Oral Health. TRIAD-OH模型:整合一种健康和牙科公共卫生的系统创新,以推进特殊护理牙科和全球残疾人口腔健康。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70166
Vaibhav Kumar, Arjun Kolekar, Tanisha Lala, Ridhima Gaunkar
{"title":"The TRIAD-OH Model: A Systems Innovation Integrating One Health and Dental Public Health to Advance Special Care Dentistry and Global Disability-Inclusive Oral Health.","authors":"Vaibhav Kumar, Arjun Kolekar, Tanisha Lala, Ridhima Gaunkar","doi":"10.1111/scd.70166","DOIUrl":"https://doi.org/10.1111/scd.70166","url":null,"abstract":"","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70166"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comprehensive Care for People With Hemophilia: A Dental Perspective From an Indian Scenario. 血友病患者的综合护理:来自印度情景的牙科视角。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70159
Sulochana Badagabettu, Mathangi Kumar
{"title":"Comprehensive Care for People With Hemophilia: A Dental Perspective From an Indian Scenario.","authors":"Sulochana Badagabettu, Mathangi Kumar","doi":"10.1111/scd.70159","DOIUrl":"https://doi.org/10.1111/scd.70159","url":null,"abstract":"<p><strong>Introduction: </strong>Hemophilia is the most common serious bleeding disorder inherited in an X-linked recessive manner. It is caused by the absence or reduced activity of factor VIII (hemophilia A) or factor IX (hemophilia B). Oral cavity is also one of the most crucial sites for bleeding in people with hemophilia.</p><p><strong>Aims: </strong>This systematic review aims to explore the oral health status of people with hemophilia and the clinical challenges encountered while treating them in a dental setting. Also to elaborate on possible recommendations and best practices to provide safe dental care for patients with hemophilia. A systematic analysis of the literature was conducted to evaluate the oral health and dentition status of individuals with hemophilia. The evidence and best practices for providing dental treatment to this population were also reviewed.</p><p><strong>Results: </strong>The results showed that individuals with hemophilia in India had a poor oral hygiene and dentition status compared to the healthy counterparts. Whereas, in the Western World, people with hemophilia had a better oral health status. This trend may be attributed to differences in treatment models for hemophilia care. Limited access to dental care and a lack of professional expertise were identified as key factors contributing to compromised oral health. Additionally, fear of hospitalization and the need for factor transfusions to manage oral bleeding were significant barriers to seeking dental care. A comprehensive care model that integrates dental care as an essential component should be advocated to prevent advanced dental disease and reduce the need for invasive procedures. Timely dental treatment can minimize the amount of clotting factor replacement therapy required. Preventive oral health measures can also eliminate the need for invasive and expensive dental treatments.</p><p><strong>Summary: </strong>Comprehensive care for individuals with hemophilia involves ongoing management of medical and psychological needs of the patient and their family. Oral hygiene and dentition status in people with hemophilia is one of the overlooked aspects in the comprehensive care. This review was conducted to understand the oral aspects in people with hemophilia from an Indian perspective and explore the role of dental care in the comprehensive care model for people with hemophilia.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70159"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147391441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association Between Solid Organ Transplantation and Oral Candidiasis: A Systematic Review and Meta-Analysis. 实体器官移植与口腔念珠菌病的关系:一项系统综述和荟萃分析。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70157
Neha Shah, Sangeeta Sinha, Abhay Sonthalia, Divesh Sardana
{"title":"Association Between Solid Organ Transplantation and Oral Candidiasis: A Systematic Review and Meta-Analysis.","authors":"Neha Shah, Sangeeta Sinha, Abhay Sonthalia, Divesh Sardana","doi":"10.1111/scd.70157","DOIUrl":"10.1111/scd.70157","url":null,"abstract":"<p><strong>Aim: </strong>To summarize the evidence on the association of oral candidiasis with solid organ transplantation in case-control and cohort studies.</p><p><strong>Methods: </strong>The quality of studies was assessed using the Newcastle-Ottawa scale. Random-effects restricted maximum likelihood model or Fixed-effects Mantel-Haenszel models were used to pool the results appropriately, and sensitivity analysis, subgroup analysis, and publication bias were assessed. The certainty of evidence was assessed using the GRADE approach.</p><p><strong>Results: </strong>The pooled OR of candidiasis in immunosuppressed individuals receiving solid organ transplants compared to controls was found to be 3.52 (95% CI: 1.92, 6.46; p < 0.05). The pooled OR of oral candidiasis in kidney transplant recipients compared to controls was 3.53 (95% CI: 1.92, 6.49; p < 0.05); for liver, 20.12 (95% CI: 3.83, 105.74; p < 0 .05), and heart, 152.01 (95% CI: 17.71, 1304.96; p < 0.05).</p><p><strong>Conclusions: </strong>There was moderate certainty of evidence that there was an increased risk of oral candidiasis in immunosuppressed patients who received solid organ transplants compared to healthy controls. Similarly, the evidence was moderate for subgroup analysis regarding the kidney transplant recipients, liver transplant recipients, and heart transplant recipients. Due to the lack of current research, future research should evaluate the risk of oral candidiasis in patients receiving pancreas or small bowel transplants. Also, future studies should evaluate the role of prophylactic antifungals in immunosuppressed solid organ transplant recipients.</p><p><strong>Trial registration: </strong>PROSPERO number: CRD42022363816.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70157"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13007491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comment on: "Unusual Oral Presentations of Herpes Simplex Virus-1: A Series of Eight Cases and Literature Review". 评论:《单纯疱疹病毒-1的异常口腔表现:8例系列病例及文献综述》
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70173
Juliana Bertoldi Franco
{"title":"Comment on: \"Unusual Oral Presentations of Herpes Simplex Virus-1: A Series of Eight Cases and Literature Review\".","authors":"Juliana Bertoldi Franco","doi":"10.1111/scd.70173","DOIUrl":"https://doi.org/10.1111/scd.70173","url":null,"abstract":"","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70173"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147634753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Conscious Intramuscular Sedation in Children With Autism Spectrum Disorder Undergoing Outpatient Dental Treatment: A Retrospective Observational Cross-Sectional Study. 评估接受门诊牙科治疗的自闭症谱系障碍儿童有意识肌肉注射镇静:一项回顾性观察性横断面研究。
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70171
Bruna Lavinas Sayed Picciani, Pedro Fernandes de Souza Lima, Natália Cristina Ruy Carneiro, Breno Maia Mariz Plaisant, Milena Tissi Fonseca Vieira, Lais David Amaral, Ana Cristina Borges-Oliveira
{"title":"Evaluation of Conscious Intramuscular Sedation in Children With Autism Spectrum Disorder Undergoing Outpatient Dental Treatment: A Retrospective Observational Cross-Sectional Study.","authors":"Bruna Lavinas Sayed Picciani, Pedro Fernandes de Souza Lima, Natália Cristina Ruy Carneiro, Breno Maia Mariz Plaisant, Milena Tissi Fonseca Vieira, Lais David Amaral, Ana Cristina Borges-Oliveira","doi":"10.1111/scd.70171","DOIUrl":"https://doi.org/10.1111/scd.70171","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate the safety and efficacy of a conscious intramuscular (IM) sedation protocol combined with inhalational sedation in children with autism spectrum disorder (ASD) undergoing outpatient dental treatment, based on clinical data and dentists' perceptions.</p><p><strong>Methods and results: </strong>Thirty-seven sedation appointments in 28 patients with ASD were analyzed. Patients received an IM protocol of midazolam 0.1 mg/kg, ketamine 0.7 mg/kg, dexmedetomidine 0.5 mcg/kg, and promethazine 0.3 mg/kg. Data collection included demographics, support needs, use of central nervous system (CNS) depressants, procedures performed, adverse events, sedation time, clinicians' assessments, and vital signs. Most patients were males (68%); aged 3-12 years and 65% required Level III support. CNS depressants were routinely used in 66% of cases. Surgical procedures occurred in 46% of appointments, and mean sedation time was 40 min. Only five (14%) adverse events were observed, and clinicians rated sedation as excellent in 62% of cases. Vital signs showed minimal variation throughout sedation. No statistically significant association were found between CNS depressant use and adverse events or between sedation success and sex, age, support level, or procedure characteristics.</p><p><strong>Conclusion: </strong>This IM sedation protocol appears safe and effective for outpatient dental care in individuals with ASD. Further research is needed to expand equitable access to sedation-based care.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70171"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings. 复合杂合组织蛋白酶C突变引起表型乳头状拉弗/海姆-蒙克综合征:一例报告和WES结果回顾
IF 1
Special Care in Dentistry Pub Date : 2026-03-01 DOI: 10.1111/scd.70164
Motaz Assas, Abdullah Hazzazi, Abdullah Alutaibi, Ameerah Aladwani, Arwa U Alsaggaf, Bashayer Alshawi, Hassan Abed
{"title":"A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.","authors":"Motaz Assas, Abdullah Hazzazi, Abdullah Alutaibi, Ameerah Aladwani, Arwa U Alsaggaf, Bashayer Alshawi, Hassan Abed","doi":"10.1111/scd.70164","DOIUrl":"https://doi.org/10.1111/scd.70164","url":null,"abstract":"<p><strong>Introduction: </strong>Cathepsin C (CTSC), a lysosomal cysteine protease, acts as a primary activator of several critical immune enzymes. Mutations in CTSC can cause a variety of conditions, primarily Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS), both rare autosomal recessive palmoplantar keratoderma (PPK) diseases.</p><p><strong>Case report: </strong>We report the case of a 24-year-old female patient. Her past medical history revealed an undiagnosed condition associated with symptoms of thick, dry, and cracked skin. Additionally, she is of Myanmar heritage and has shared a family history of similar symptoms. The patient was referred to a dermatologist for further evaluation and genetic sequencing to confirm the diagnosis. Whole-exome sequencing (WES) revealed two heterozygous compound variants in the CTSC gene.</p><p><strong>Discussion: </strong>The report highlighted the clinical findings relevant to CTSC's genetic standpoint regarding the mutational indications of PLS and HMS. These diseases are allelic and share clinical features of PPK, including early-onset periodontal deterioration and early tooth loss. These diseases are lifelong and management is usually palliative and quality-focused.</p><p><strong>Conclusion: </strong>The WES confirmed a likely Haim-Munk syndrome diagnosis from compound heterozygous CTSC variants. This aligns with severe PPK and early tooth loss, underscoring the vital need for genetic counseling and further family testing. For dental practitioners, early identification of patients with suspected Papillon-Lefèvre or Haim-Munk syndrome is essential to enable timely genetic referral, appropriate prosthetic rehabilitation, and multidisciplinary management.</p>","PeriodicalId":47470,"journal":{"name":"Special Care in Dentistry","volume":"46 2","pages":"e70164"},"PeriodicalIF":1.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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